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dbVar

Database of genomic structural variation

nsv5385143

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:180

Description:nsv4781630 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: 118 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):85,666,227-85,666,406

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5385143	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	85,666,227	85,666,406
nsv5385143	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	85,893,350	85,893,529

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16884924	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16884924	Remapped	Perfect	NC_000002.12:g.856 66227_85666406dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	85,666,227	85,666,406
nssv16884924	Submitted genomic		NC_000002.11:g.858 93350_85893529dup	GRCh37 (hg19)		NC_000002.11	Chr2	85,893,350	85,893,529

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)
nssv16884924	0.016	271	16834

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