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dbVar

Database of genomic structural variation

nsv5386688

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:155,154

Description:nsv4960299 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: 1987 SVs from 90 studies. See in: genome view

Remapped(Score: Perfect):39,374,555-39,529,708

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5386688	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	39,374,555	39,529,708
nsv5386688	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	39,232,074	39,387,227

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16884193	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16884193	Remapped	Perfect	NC_000008.11:g.393 74555_39529708del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,374,555	39,529,708
nssv16884193	Submitted genomic		NC_000008.10:g.392 32074_39387227del	GRCh37 (hg19)		NC_000008.10	Chr8	39,232,074	39,387,227

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)
nssv16884193	0.314	9174	29246

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