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dbVar

Database of genomic structural variation

nsv5393860

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:2,584

Description:nsv5036653 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: 126 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):56,893,565-56,896,148

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5393860	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	56,893,565	56,896,148
nsv5393860	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	56,758,363	56,760,946

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16871414	sva deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16871414	Remapped	Perfect	NC_000006.12:g.568 93565_56896148del	GRCh38.p12	First Pass	NC_000006.12	Chr6	56,893,565	56,896,148
nssv16871414	Submitted genomic		NC_000006.11:g.567 58363_56760946del	GRCh37 (hg19)		NC_000006.11	Chr6	56,758,363	56,760,946

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)
nssv16871414	0.36	10516	29246

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