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dbVar

Database of genomic structural variation

nsv471723

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:1,656

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

Remapped(Score: Perfect):1,627,049-1,628,704

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv471723	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	1,627,049	1,628,704
nsv471723	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	1,627,164	1,628,819
nsv471723	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000005.8	Chr5	1,680,164	1,681,819

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv646004	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
nssv646004	Remapped	Perfect	NC_000005.10:g.162 7049_1628704del	GRCh38.p12	First Pass	NC_000005.10	Chr5	1,627,049	1,628,704
nssv646004	Remapped	Perfect	NC_000005.9:g.1627 164_1628819del	GRCh37.p13	First Pass	NC_000005.9	Chr5	1,627,164	1,628,819
nssv646004	Submitted genomic		NC_000005.8:g.1680 164_1681819del	NCBI35 (hg17)		NC_000005.8	Chr5	1,680,164	1,681,819

Validation Information

Variant Call ID	Experiment ID	Method	Analysis	Result
nssv646004	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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