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dbVar

Database of genomic structural variation

nsv5384551

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:267

Description:nsv4784265 from Abel et. al 2020. 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: 124 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):153,988,747-153,989,013

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5384551	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	153,988,747	153,989,013
nsv5384551	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	153,961,223	153,961,489

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16876431	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16876431	Remapped	Perfect	NC_000001.11:g.153 988747_153989013de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	153,988,747	153,989,013
nssv16876431	Submitted genomic		NC_000001.10:g.153 961223_153961489de l	GRCh37 (hg19)		NC_000001.10	Chr1	153,961,223	153,961,489

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)
nssv16876431	0.059	999	16834

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