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dbVar

Database of genomic structural variation

nsv5383405

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:192

Description:nsv4806336 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: 153 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):233,790,482-233,790,673

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5383405	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	233,790,482	233,790,673
nsv5383405	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	234,699,128	234,699,319

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16872765	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16872765	Remapped	Perfect	NC_000002.12:g.233 790482_233790673de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	233,790,482	233,790,673
nssv16872765	Submitted genomic		NC_000002.11:g.234 699128_234699319de l	GRCh37 (hg19)		NC_000002.11	Chr2	234,699,128	234,699,319

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)
nssv16872765	0.428	7191	16816

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