nsv4366793

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:39
Validation:Not tested
Clinical Assertions: No
Region Size:126,884

Publication(s):Zarrei et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 1889 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):254,254-381,137

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4366793	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	254,254	381,137
nsv4366793	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	254,254	381,137

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15616749	copy number loss	1-0800-003	SNP array	Genotyping	26
nssv15620152	copy number loss	1-0945-003	SNP array	Genotyping	24
nssv15620600	copy number loss	1-0974-003	SNP array	Genotyping	19
nssv15622235	copy number gain	1-0232-003	SNP array	Genotyping	32
nssv15624069	copy number loss	1-0290-003	SNP array	Genotyping	25
nssv15626201	copy number loss	1-0438-003	SNP array	Genotyping	23
nssv15626885	copy number gain	1-0456-003	SNP array	Genotyping	22
nssv15628745	copy number gain	1-0553-001	SNP array	Genotyping	29
nssv15630101	copy number loss	1-0632-004	SNP array	Genotyping	19
nssv15630713	copy number loss	1-0006-004	SNP array	Genotyping	25
nssv15632458	copy number loss	10-0007-001	SNP array	Genotyping	16
nssv15634634	copy number loss	12-4310-002	SNP array	Genotyping	21
nssv15638162	copy number gain	14-0136-002	SNP array	Genotyping	28
nssv15640133	copy number loss	14-0112-004	SNP array	Genotyping	23
nssv15647629	copy number gain	2-0309-002	SNP array	Genotyping	14
nssv15648785	copy number loss	2-1285-003	SNP array	Genotyping	26
nssv15660264	copy number loss	3-0718-000	SNP array	Genotyping	20
nssv15663190	copy number gain	4-0055-002	SNP array	Genotyping	21
nssv15663954	copy number gain	5-0143-001	SNP array	Genotyping	24
nssv15665726	copy number gain	7-0086-003	SNP array	Genotyping	16
nssv15667555	copy number loss	5-0148-001	SNP array	Genotyping	23
nssv15669169	copy number gain	7-0137-003	SNP array	Genotyping	17
nssv15669966	copy number loss	7-0257-003	SNP array	Genotyping	18
nssv15670716	copy number loss	7-0241-003	SNP array	Genotyping	21
nssv15670765	copy number loss	7-0277-003	SNP array	Genotyping	18
nssv15671108	copy number gain	7-0300-003	SNP array	Genotyping	19
nssv15671703	copy number loss	9-0004-003	SNP array	Genotyping	22
nssv15672057	copy number loss	9-0012-003	SNP array	Genotyping	23
nssv15672583	copy number loss	9-0010-001	SNP array	Genotyping	15
nssv15672595	copy number loss	9-0011-001	SNP array	Genotyping	18
nssv15672927	copy number loss	9-0010-002	SNP array	Genotyping	13
nssv15677817	copy number gain	235985S	SNP array	Genotyping	19
nssv15678572	copy number gain	205111	SNP array	Genotyping	15
nssv15679136	copy number gain	182135	SNP array	Genotyping	19
nssv15682626	copy number loss	OCD121-S_1736	SNP array	Genotyping	21
nssv15689830	copy number loss	OCD1150-S_HAM473	SNP array	Genotyping	24
nssv15689904	copy number loss	OCD1158-S_HAM503	SNP array	Genotyping	22
nssv15692885	copy number gain	OCD77-896701	SNP array	Genotyping	18
nssv15701991	copy number loss	199597	SNP array	Genotyping	18

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15616749	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15620152	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15620600	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15622235	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15624069	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15626201	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15626885	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15628745	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15630101	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15630713	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15632458	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15634634	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15638162	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15640133	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15647629	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15648785	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15660264	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15663190	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15663954	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15665726	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15667555	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15669169	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15669966	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15670716	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15670765	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15671108	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15671703	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15672057	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15672583	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15672595	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15672927	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15677817	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15678572	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15679136	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15682626	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15689830	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15689904	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15692885	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15701991	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(381137_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	381,137
nssv15616749	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15620152	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15620600	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15622235	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15624069	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15626201	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15626885	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15628745	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15630101	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15630713	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15632458	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15634634	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15638162	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15640133	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15647629	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15648785	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15660264	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15663190	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15663954	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15665726	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15667555	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15669169	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15669966	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15670716	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15670765	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15671108	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15671703	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15672057	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15672583	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15672595	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15672927	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15677817	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15678572	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15679136	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15682626	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15689830	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15689904	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15692885	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137
nssv15701991	Submitted genomic		NC_000006.11:g.(?_ 254254)_(381137_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	381,137

dbVar

Database of genomic structural variation

nsv4366793

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant