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dbVar

Database of genomic structural variation

nsv4380712

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:25,687

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: 237 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):47,227,022-47,252,708

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4380712	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	47,227,022	47,252,708
nsv4380712	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	47,696,225	47,721,911

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15632119	copy number loss	10-0011-002	SNP array	Genotyping	28
nssv15681417	copy number loss	OCD103-1585	SNP array	Genotyping	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15632119	Remapped	Perfect	NC_000014.9:g.(?_4 7227022)_(47252708 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	47,227,022	47,252,708
nssv15681417	Remapped	Perfect	NC_000014.9:g.(?_4 7227022)_(47252708 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	47,227,022	47,252,708
nssv15632119	Submitted genomic		NC_000014.8:g.(?_4 7696225)_(47721911 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	47,696,225	47,721,911
nssv15681417	Submitted genomic		NC_000014.8:g.(?_4 7696225)_(47721911 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	47,696,225	47,721,911

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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