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dbVar

Database of genomic structural variation

nsv5393714

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:6,158

Description:nsv5029505 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: 304 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):96,057,781-96,063,938

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5393714	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	96,057,781	96,063,938
nsv5393714	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	95,312,780	95,318,937

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16888760	line1 deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16888760	Remapped	Perfect	NC_000023.11:g.960 57781_96063938del	GRCh38.p12	First Pass	NC_000023.11	ChrX	96,057,781	96,063,938
nssv16888760	Submitted genomic		NC_000023.10:g.953 12780_95318937del	GRCh37 (hg19)		NC_000023.10	ChrX	95,312,780	95,318,937

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)
nssv16888760	0.395	11501	29150

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