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dbVar

Database of genomic structural variation

nsv4384615

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:36,934

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: 1177 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):257,340-294,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4384615	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	257,340	294,273
nsv4384615	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	257,340	294,273

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15615602	copy number gain	1-0798-003	SNP array	Genotyping	17
nssv15620288	copy number gain	1-0960-003	SNP array	Genotyping	23
nssv15650759	copy number loss	2-1363-003	SNP array	Genotyping	26
nssv15692837	copy number loss	OCD73-896563	SNP array	Genotyping	21
nssv15694246	copy number loss	OCD83-896813	SNP array	Genotyping	27

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15615602	Remapped	Perfect	NC_000006.12:g.(?_ 257340)_(294273_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	257,340	294,273
nssv15620288	Remapped	Perfect	NC_000006.12:g.(?_ 257340)_(294273_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	257,340	294,273
nssv15650759	Remapped	Perfect	NC_000006.12:g.(?_ 257340)_(294273_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	257,340	294,273
nssv15692837	Remapped	Perfect	NC_000006.12:g.(?_ 257340)_(294273_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	257,340	294,273
nssv15694246	Remapped	Perfect	NC_000006.12:g.(?_ 257340)_(294273_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	257,340	294,273
nssv15615602	Submitted genomic		NC_000006.11:g.(?_ 257340)_(294273_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	257,340	294,273
nssv15620288	Submitted genomic		NC_000006.11:g.(?_ 257340)_(294273_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	257,340	294,273
nssv15650759	Submitted genomic		NC_000006.11:g.(?_ 257340)_(294273_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	257,340	294,273
nssv15692837	Submitted genomic		NC_000006.11:g.(?_ 257340)_(294273_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	257,340	294,273
nssv15694246	Submitted genomic		NC_000006.11:g.(?_ 257340)_(294273_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	257,340	294,273

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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