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dbVar

Database of genomic structural variation

nsv4647798

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:19,487

Description:esv3883816 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 1023 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):40,848,147-40,867,633

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4647798	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	40,848,147	40,867,633
nsv4647798	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	41,354,052	41,373,538

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16187299	copy number loss	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16187299	Remapped	Perfect	NC_000019.10:g.408 48147_40867633del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,848,147	40,867,633
nssv16187299	Submitted genomic		NC_000019.9:g.4135 4052_41373538del	GRCh37 (hg19)		NC_000019.9	Chr19	41,354,052	41,373,538

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)
nssv16187299	0.052	259	5008

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