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dbVar

Database of genomic structural variation

nsv6293574

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:52

Description:nsv5398498 from Byrska-Bishop et. al 2021. 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: 77 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):42,395,620-42,395,671

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6293574	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	42,395,620	42,395,671
nsv6293574	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	42,437,112	42,437,163

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17664248	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17664248	Remapped	Perfect	NC_000003.12:g.423 95620_42395671ins?	GRCh38.p12	First Pass	NC_000003.12	Chr3	42,395,620	42,395,671
nssv17664248	Submitted genomic		NC_000003.11:g.424 37112_42437163ins?	GRCh37 (hg19)		NC_000003.11	Chr3	42,437,112	42,437,163

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)
nssv17664248	0.127	811	6404

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