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dbVar

Database of genomic structural variation

nsv5383289

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:354

Description:nsv4771314 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: 235 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):133,514,076-133,514,429

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5383289	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	133,514,076	133,514,429
nsv5383289	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	136,379,198	136,379,551

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16881810	alu deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16881810	Remapped	Perfect	NC_000009.12:g.133 514076_133514429de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	133,514,076	133,514,429
nssv16881810	Submitted genomic		NC_000009.11:g.136 379198_136379551de l	GRCh37 (hg19)		NC_000009.11	Chr9	136,379,198	136,379,551

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)
nssv16881810	0.554	9322	16834

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