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dbVar

Database of genomic structural variation

nsv4665342

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:3,250

Description:nsv4586775 from DECIPHER Consensus CNVs. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

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: 136 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):94,873,383-94,876,632

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4665342	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	94,873,383	94,876,632
nsv4665342	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	95,539,128	95,542,377

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16189975	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16189975	Remapped	Perfect	NC_000002.12:g.(?_ 94873383)_(9487663 2_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	94,873,383	94,876,632
nssv16189975	Submitted genomic		NC_000002.11:g.(?_ 95539128)_(9554237 7_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	95,539,128	95,542,377

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16189975	0.025	21	845

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