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dbVar

Database of genomic structural variation

nsv4366393

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:47,096

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: 350 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):29,928,904-29,975,999

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4366393	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	29,928,904	29,975,999
nsv4366393	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	30,324,893	30,371,988

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15615271	copy number loss	1-0765-003	SNP array	Genotyping	26
nssv15691892	copy number loss	OCD82-896792	SNP array	Genotyping	27
nssv15691918	copy number loss	OCD82-896793	SNP array	Genotyping	25

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15615271	Remapped	Perfect	NC_000022.11:g.(?_ 29928904)_(2997599 9_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	29,928,904	29,975,999
nssv15691892	Remapped	Perfect	NC_000022.11:g.(?_ 29928904)_(2997599 9_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	29,928,904	29,975,999
nssv15691918	Remapped	Perfect	NC_000022.11:g.(?_ 29928904)_(2997599 9_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	29,928,904	29,975,999
nssv15615271	Submitted genomic		NC_000022.10:g.(?_ 30324893)_(3037198 8_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	30,324,893	30,371,988
nssv15691892	Submitted genomic		NC_000022.10:g.(?_ 30324893)_(3037198 8_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	30,324,893	30,371,988
nssv15691918	Submitted genomic		NC_000022.10:g.(?_ 30324893)_(3037198 8_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	30,324,893	30,371,988

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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