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dbVar

Database of genomic structural variation

nsv4373047

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:23,652

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: 246 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):70,696,193-70,719,844

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4373047	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	70,696,193	70,719,844
nsv4373047	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	71,608,428	71,632,079

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15641437	copy number loss	14-0349-004	SNP array	Genotyping	21
nssv15661444	copy number loss	5-0106-003	SNP array	Genotyping	21
nssv15668614	copy number loss	7-0207-003	SNP array	Genotyping	27

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15641437	Remapped	Perfect	NC_000008.11:g.(?_ 70696193)_(7071984 4_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	70,696,193	70,719,844
nssv15661444	Remapped	Perfect	NC_000008.11:g.(?_ 70696193)_(7071984 4_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	70,696,193	70,719,844
nssv15668614	Remapped	Perfect	NC_000008.11:g.(?_ 70696193)_(7071984 4_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	70,696,193	70,719,844
nssv15641437	Submitted genomic		NC_000008.10:g.(?_ 71608428)_(7163207 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	71,608,428	71,632,079
nssv15661444	Submitted genomic		NC_000008.10:g.(?_ 71608428)_(7163207 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	71,608,428	71,632,079
nssv15668614	Submitted genomic		NC_000008.10:g.(?_ 71608428)_(7163207 9_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	71,608,428	71,632,079

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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