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dbVar

Database of genomic structural variation

nsv6114382

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:nsv5430731 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: 146 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):59,971,255-59,971,306

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6114382	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	59,971,255	59,971,306
nsv6114382	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	58,048,616	58,048,667

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958105	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958105	Remapped	Perfect	NC_000017.11:g.599 71255_59971306ins?	GRCh38.p12	First Pass	NC_000017.11	Chr17	59,971,255	59,971,306
nssv17958105	Submitted genomic		NC_000017.10:g.580 48616_58048667ins?	GRCh37 (hg19)		NC_000017.10	Chr17	58,048,616	58,048,667

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)
nssv17958105	0.01	66	6404

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