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dbVar

Database of genomic structural variation

nsv4386751

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:106,064

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: 1698 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):68,570,183-68,676,246

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4386751	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	68,570,183	68,676,246
nsv4386751	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	69,435,901	69,541,964

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15632968	copy number loss	10-1076-005	SNP array	Genotyping	21
nssv15666136	copy number gain	5-0085-002	SNP array	Genotyping	20
nssv15686057	copy number loss	OCD176-8961183	SNP array	Genotyping	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15632968	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867624 6_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,676,246
nssv15666136	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867624 6_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,676,246
nssv15686057	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867624 6_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,676,246
nssv15632968	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954196 4_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,541,964
nssv15666136	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954196 4_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,541,964
nssv15686057	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954196 4_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,541,964

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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