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dbVar

Database of genomic structural variation

nsv471808

Organism: Homo sapiens

Study:nstd34 (Hinds et al. 2005)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI35 (hg17)

Variant Calls:1
Validation:Yes
Clinical Assertions: No
Region Size:3,466

Publication(s):Hinds et al. 2005

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: 173 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):42,704,043-42,707,508

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv471808	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	42,704,043	42,707,508
nsv471808	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	42,706,060	42,709,525
nsv471808	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000004.9	Chr4	42,546,988	42,550,453

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv646089	copy number loss	Oligo aCGH	Probe signal intensity

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv646089	Remapped	Perfect	NC_000004.12:g.427 04043_42707508del	GRCh38.p12	First Pass	NC_000004.12	Chr4	42,704,043	42,707,508
nssv646089	Remapped	Perfect	NC_000004.11:g.427 06060_42709525del	GRCh37.p13	First Pass	NC_000004.11	Chr4	42,706,060	42,709,525
nssv646089	Submitted genomic		NC_000004.9:g.4254 6988_42550453del	NCBI35 (hg17)		NC_000004.9	Chr4	42,546,988	42,550,453

Validation Information

Variant Call ID	Experiment ID	Method	Analysis	Result
nssv646089	2	PCR	Manual observation	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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