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dbVar

Database of genomic structural variation

nsv6295018

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:nsv5395715 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: 129 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):204,792,476-204,792,527

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295018	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	204,792,476	204,792,527
nsv6295018	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	205,657,199	205,657,250

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17663584	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17663584	Remapped	Perfect	NC_000002.12:g.204 792476_204792527in s?	GRCh38.p12	First Pass	NC_000002.12	Chr2	204,792,476	204,792,527
nssv17663584	Submitted genomic		NC_000002.11:g.205 657199_205657250in s?	GRCh37 (hg19)		NC_000002.11	Chr2	205,657,199	205,657,250

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)
nssv17663584	0.031	201	6404

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