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dbVar

Database of genomic structural variation

nsv5383388

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:933

Description:nsv4907409 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: 170 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):26,247,904-26,248,836

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5383388	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	26,247,904	26,248,836
nsv5383388	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	23,827,868	23,828,800

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16876644	alu deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16876644	Remapped	Perfect	NC_000018.10:g.262 47904_26248836del	GRCh38.p12	First Pass	NC_000018.10	Chr18	26,247,904	26,248,836
nssv16876644	Submitted genomic		NC_000018.9:g.2382 7868_23828800del	GRCh37 (hg19)		NC_000018.9	Chr18	23,827,868	23,828,800

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)
nssv16876644	0.041	1194	29246

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