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dbVar

Database of genomic structural variation

nsv6295012

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:nsv5400987 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: 255 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):184,410,711-184,410,762

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295012	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	184,410,711	184,410,762
nsv6295012	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	185,331,865	185,331,916

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17667571	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17667571	Remapped	Perfect	NC_000004.12:g.184 410711_184410762in s?	GRCh38.p12	First Pass	NC_000004.12	Chr4	184,410,711	184,410,762
nssv17667571	Submitted genomic		NC_000004.11:g.185 331865_185331916in s?	GRCh37 (hg19)		NC_000004.11	Chr4	185,331,865	185,331,916

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)
nssv17667571	0.049	311	6404

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