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dbVar

Database of genomic structural variation

nsv6308804

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:nsv5563192 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: 79 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):59,197,151-59,197,202

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6308804	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	59,197,151	59,197,202
nsv6308804	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	58,492,977	58,493,028

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17665405	line1 insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17665405	Remapped	Perfect	NC_000005.10:g.591 97151_59197202ins?	GRCh38.p12	First Pass	NC_000005.10	Chr5	59,197,151	59,197,202
nssv17665405	Submitted genomic		NC_000005.9:g.5849 2977_58493028ins?	GRCh37 (hg19)		NC_000005.9	Chr5	58,492,977	58,493,028

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)
nssv17665405	0.55	3523	6404

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