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dbVar

Database of genomic structural variation

nsv6123275

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:306

Description:nsv5507003 from Byrska-Bishop et. al 2021. 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: 232 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):110,222,490-110,222,795

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6123275	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	110,222,490	110,222,795
nsv6123275	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	110,874,837	110,875,142

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17968252	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17968252	Remapped	Perfect	NC_000013.11:g.110 222490_110222795de l	GRCh38.p12	First Pass	NC_000013.11	Chr13	110,222,490	110,222,795
nssv17968252	Submitted genomic		NC_000013.10:g.110 874837_110875142de l	GRCh37 (hg19)		NC_000013.10	Chr13	110,874,837	110,875,142

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)
nssv17968252	0.038	241	6396

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