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dbVar

Database of genomic structural variation

nsv4365777

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:23,745

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: 323 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):48,312,744-48,336,488

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4365777	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	48,312,744	48,336,488
nsv4365777	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	48,706,527	48,730,271

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15619644	copy number loss	1-0955-003	SNP array	Genotyping	22
nssv15626810	copy number loss	1-0452-005	SNP array	Genotyping	19
nssv15656368	copy number loss	2-1715-003	SNP array	Genotyping	25
nssv15668450	copy number loss	7-0222-003	SNP array	Genotyping	25

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15619644	Remapped	Perfect	NC_000012.12:g.(?_ 48312744)_(4833648 8_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	48,312,744	48,336,488
nssv15626810	Remapped	Perfect	NC_000012.12:g.(?_ 48312744)_(4833648 8_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	48,312,744	48,336,488
nssv15656368	Remapped	Perfect	NC_000012.12:g.(?_ 48312744)_(4833648 8_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	48,312,744	48,336,488
nssv15668450	Remapped	Perfect	NC_000012.12:g.(?_ 48312744)_(4833648 8_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	48,312,744	48,336,488
nssv15619644	Submitted genomic		NC_000012.11:g.(?_ 48706527)_(4873027 1_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	48,706,527	48,730,271
nssv15626810	Submitted genomic		NC_000012.11:g.(?_ 48706527)_(4873027 1_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	48,706,527	48,730,271
nssv15656368	Submitted genomic		NC_000012.11:g.(?_ 48706527)_(4873027 1_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	48,706,527	48,730,271
nssv15668450	Submitted genomic		NC_000012.11:g.(?_ 48706527)_(4873027 1_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	48,706,527	48,730,271

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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