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dbVar

Database of genomic structural variation

nsv5386636

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:150

Description:nsv4964922 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: 122 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):87,380,245-87,380,394

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5386636	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	87,380,245	87,380,394
nsv5386636	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	87,009,561	87,009,710

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16869698	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16869698	Remapped	Perfect	NC_000007.14:g.873 80245_87380394dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	87,380,245	87,380,394
nssv16869698	Submitted genomic		NC_000007.13:g.870 09561_87009710dup	GRCh37 (hg19)		NC_000007.13	Chr7	87,009,561	87,009,710

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)
nssv16869698	0.499	14590	29246

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