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dbVar

Database of genomic structural variation

nsv4384963

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:48,712

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: 343 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):43,398,074-43,446,785

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4384963	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	43,398,074	43,446,785
nsv4384963	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	43,253,217	43,301,928

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15648986	copy number loss	2-1130-003	SNP array	Genotyping	22
nssv15695312	copy number loss	159369	SNP array	Genotyping	23
nssv15698125	copy number loss	176062	SNP array	Genotyping	19
nssv15698597	copy number loss	159367	SNP array	Genotyping	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15648986	Remapped	Perfect	NC_000008.11:g.(?_ 43398074)_(4344678 5_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	43,398,074	43,446,785
nssv15695312	Remapped	Perfect	NC_000008.11:g.(?_ 43398074)_(4344678 5_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	43,398,074	43,446,785
nssv15698125	Remapped	Perfect	NC_000008.11:g.(?_ 43398074)_(4344678 5_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	43,398,074	43,446,785
nssv15698597	Remapped	Perfect	NC_000008.11:g.(?_ 43398074)_(4344678 5_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	43,398,074	43,446,785
nssv15648986	Submitted genomic		NC_000008.10:g.(?_ 43253217)_(4330192 8_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	43,253,217	43,301,928
nssv15695312	Submitted genomic		NC_000008.10:g.(?_ 43253217)_(4330192 8_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	43,253,217	43,301,928
nssv15698125	Submitted genomic		NC_000008.10:g.(?_ 43253217)_(4330192 8_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	43,253,217	43,301,928
nssv15698597	Submitted genomic		NC_000008.10:g.(?_ 43253217)_(4330192 8_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	43,253,217	43,301,928

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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