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dbVar

Database of genomic structural variation

nsv5393554

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:mobile element deletion
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,561

Description:nsv5040237 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: 166 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):112,292,483-112,295,043

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5393554	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	112,292,483	112,295,043
nsv5393554	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	112,835,105	112,837,665

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16871438	sva deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16871438	Remapped	Perfect	NC_000001.11:g.112 292483_112295043de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	112,292,483	112,295,043
nssv16871438	Submitted genomic		NC_000001.10:g.112 835105_112837665de l	GRCh37 (hg19)		NC_000001.10	Chr1	112,835,105	112,837,665

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)
nssv16871438	0.933	27284	29246

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