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dbVar

Database of genomic structural variation

nsv5384258

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:729

Description:nsv4901209 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: 159 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):37,120,527-37,121,255

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5384258	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	37,120,527	37,121,255
nsv5384258	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	37,347,670	37,348,398

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16883026	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16883026	Remapped	Perfect	NC_000002.12:g.371 20527_37121255del	GRCh38.p12	First Pass	NC_000002.12	Chr2	37,120,527	37,121,255
nssv16883026	Submitted genomic		NC_000002.11:g.373 47670_37348398del	GRCh37 (hg19)		NC_000002.11	Chr2	37,347,670	37,348,398

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)
nssv16883026	0.049	1442	29246

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