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dbVar

Database of genomic structural variation

nsv6116832

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:nsv5419091 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: 124 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):56,454,692-56,454,743

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6116832	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	56,454,692	56,454,743
nsv6116832	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	56,966,061	56,966,112

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17959438	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17959438	Remapped	Perfect	NC_000019.10:g.564 54692_56454743ins?	GRCh38.p12	First Pass	NC_000019.10	Chr19	56,454,692	56,454,743
nssv17959438	Submitted genomic		NC_000019.9:g.5696 6061_56966112ins?	GRCh37 (hg19)		NC_000019.9	Chr19	56,966,061	56,966,112

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)
nssv17959438	0.249	1596	6404

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