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dbVar

Database of genomic structural variation

nsv4379788

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:47,874

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: 181 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):95,446,121-95,493,994

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4379788	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	95,446,121	95,493,994
nsv4379788	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	96,111,869	96,159,742

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15626465	copy number loss	1-0439-004	SNP array	Genotyping	21
nssv15657385	copy number loss	3-0490-000	SNP array	Genotyping	24
nssv15686643	copy number loss	OCD152-SM-1338(188608)	SNP array	Genotyping	21

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15626465	Remapped	Perfect	NC_000002.12:g.(?_ 95446121)_(9549399 4_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	95,446,121	95,493,994
nssv15657385	Remapped	Perfect	NC_000002.12:g.(?_ 95446121)_(9549399 4_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	95,446,121	95,493,994
nssv15686643	Remapped	Perfect	NC_000002.12:g.(?_ 95446121)_(9549399 4_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	95,446,121	95,493,994
nssv15626465	Submitted genomic		NC_000002.11:g.(?_ 96111869)_(9615974 2_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	96,111,869	96,159,742
nssv15657385	Submitted genomic		NC_000002.11:g.(?_ 96111869)_(9615974 2_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	96,111,869	96,159,742
nssv15686643	Submitted genomic		NC_000002.11:g.(?_ 96111869)_(9615974 2_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	96,111,869	96,159,742

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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