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dbVar

Database of genomic structural variation

nsv4380816

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:54,149

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: 712 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):52,510,045-52,564,193

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4380816	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	52,510,045	52,564,193
nsv4380816	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	52,737,183	52,791,331

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15638578	copy number loss	13-0095-004	SNP array	Genotyping	24
nssv15691675	copy number loss	OCD75-JB-1215	SNP array	Genotyping	23
nssv15692791	copy number loss	OCD73-896561	SNP array	Genotyping	29

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15638578	Remapped	Perfect	NC_000002.12:g.(?_ 52510045)_(5256419 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	52,510,045	52,564,193
nssv15691675	Remapped	Perfect	NC_000002.12:g.(?_ 52510045)_(5256419 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	52,510,045	52,564,193
nssv15692791	Remapped	Perfect	NC_000002.12:g.(?_ 52510045)_(5256419 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	52,510,045	52,564,193
nssv15638578	Submitted genomic		NC_000002.11:g.(?_ 52737183)_(5279133 1_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	52,737,183	52,791,331
nssv15691675	Submitted genomic		NC_000002.11:g.(?_ 52737183)_(5279133 1_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	52,737,183	52,791,331
nssv15692791	Submitted genomic		NC_000002.11:g.(?_ 52737183)_(5279133 1_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	52,737,183	52,791,331

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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