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dbVar

Database of genomic structural variation

nsv4664356

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:45

Description:nsv4584729 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: 126 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):95,286,902-95,286,946

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4664356	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	95,286,902	95,286,946
nsv4664356	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	95,952,650	95,952,694

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16205506	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16205506	Remapped	Perfect	NC_000002.12:g.(?_ 95286902)_(9528694 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	95,286,902	95,286,946
nssv16205506	Submitted genomic		NC_000002.11:g.(?_ 95952650)_(9595269 4_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	95,952,650	95,952,694

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)
nssv16205506	0.089	75	845

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