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dbVar

Database of genomic structural variation

nsv4387957

Organism: Homo sapiens

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

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:55,428

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: 2515 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):78,262,358-78,317,785

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4387957	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	78,262,358	78,317,785
nsv4387957	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	78,972,075	79,027,502

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15611566	copy number loss	1-0098-003	SNP array	Genotyping	27
nssv15636414	copy number loss	13-0049-002	SNP array	Genotyping	32
nssv15636637	copy number loss	13-0135-003	SNP array	Genotyping	21
nssv15653851	copy number loss	2-1568-001	SNP array	Genotyping	27
nssv15654230	copy number loss	2-1592-001	SNP array	Genotyping	23
nssv15678796	copy number loss	174265	SNP array	Genotyping	18
nssv15697569	copy number gain	240711	SNP array	Genotyping	27

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15611566	Remapped	Perfect	NC_000006.12:g.(?_ 78262358)_(7831778 5_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,262,358	78,317,785
nssv15636414	Remapped	Perfect	NC_000006.12:g.(?_ 78262358)_(7831778 5_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,262,358	78,317,785
nssv15636637	Remapped	Perfect	NC_000006.12:g.(?_ 78262358)_(7831778 5_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,262,358	78,317,785
nssv15653851	Remapped	Perfect	NC_000006.12:g.(?_ 78262358)_(7831778 5_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,262,358	78,317,785
nssv15654230	Remapped	Perfect	NC_000006.12:g.(?_ 78262358)_(7831778 5_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,262,358	78,317,785
nssv15678796	Remapped	Perfect	NC_000006.12:g.(?_ 78262358)_(7831778 5_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,262,358	78,317,785
nssv15697569	Remapped	Perfect	NC_000006.12:g.(?_ 78262358)_(7831778 5_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,262,358	78,317,785
nssv15611566	Submitted genomic		NC_000006.11:g.(?_ 78972075)_(7902750 2_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	78,972,075	79,027,502
nssv15636414	Submitted genomic		NC_000006.11:g.(?_ 78972075)_(7902750 2_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	78,972,075	79,027,502
nssv15636637	Submitted genomic		NC_000006.11:g.(?_ 78972075)_(7902750 2_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	78,972,075	79,027,502
nssv15653851	Submitted genomic		NC_000006.11:g.(?_ 78972075)_(7902750 2_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	78,972,075	79,027,502
nssv15654230	Submitted genomic		NC_000006.11:g.(?_ 78972075)_(7902750 2_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	78,972,075	79,027,502
nssv15678796	Submitted genomic		NC_000006.11:g.(?_ 78972075)_(7902750 2_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	78,972,075	79,027,502
nssv15697569	Submitted genomic		NC_000006.11:g.(?_ 78972075)_(7902750 2_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	78,972,075	79,027,502

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

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