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dbVar

Database of genomic structural variation

nsv4370192

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:173,280

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: 2072 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):68,501,423-68,674,702

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4370192	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	68,501,423	68,674,702
nsv4370192	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	69,367,141	69,540,420

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15619212	copy number gain	1-0931-003	SNP array	Genotyping	20
nssv15663216	copy number loss	4-0058-003	SNP array	Genotyping	20
nssv15673269	copy number gain	9-0037-001	SNP array	Genotyping	13
nssv15686364	copy number loss	OCD134-S_0625-8972-2	SNP array	Genotyping	22
nssv15688473	copy number loss	OCD32-S_896583	SNP array	Genotyping	38

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15619212	Remapped	Perfect	NC_000004.12:g.(?_ 68501423)_(6867470 2_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,501,423	68,674,702
nssv15663216	Remapped	Perfect	NC_000004.12:g.(?_ 68501423)_(6867470 2_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,501,423	68,674,702
nssv15673269	Remapped	Perfect	NC_000004.12:g.(?_ 68501423)_(6867470 2_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,501,423	68,674,702
nssv15686364	Remapped	Perfect	NC_000004.12:g.(?_ 68501423)_(6867470 2_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,501,423	68,674,702
nssv15688473	Remapped	Perfect	NC_000004.12:g.(?_ 68501423)_(6867470 2_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,501,423	68,674,702
nssv15619212	Submitted genomic		NC_000004.11:g.(?_ 69367141)_(6954042 0_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,367,141	69,540,420
nssv15663216	Submitted genomic		NC_000004.11:g.(?_ 69367141)_(6954042 0_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,367,141	69,540,420
nssv15673269	Submitted genomic		NC_000004.11:g.(?_ 69367141)_(6954042 0_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,367,141	69,540,420
nssv15686364	Submitted genomic		NC_000004.11:g.(?_ 69367141)_(6954042 0_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,367,141	69,540,420
nssv15688473	Submitted genomic		NC_000004.11:g.(?_ 69367141)_(6954042 0_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,367,141	69,540,420

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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