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dbVar

Database of genomic structural variation

nsv6298395

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:13,739

Description:nsv5463399 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: 150 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):99,611,231-99,624,969

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6298395	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	99,611,231	99,624,969
nsv6298395	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	100,532,388	100,546,126

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17664636	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17664636	Remapped	Perfect	NC_000004.12:g.996 11231_99624969dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	99,611,231	99,624,969
nssv17664636	Submitted genomic		NC_000004.11:g.100 532388_100546126du p	GRCh37 (hg19)		NC_000004.11	Chr4	100,532,388	100,546,126

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)
nssv17664636	0.01	65	6404

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