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dbVar

Database of genomic structural variation

nsv5956753

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):Almarri et al. 2020

Links to Other Resources

Overlapping Genes

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: 150 SVs from 24 studies. See in: genome view

Submitted genomic42,547,493-42,547,493

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5956753	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	42,547,493	42,547,493
nsv5956753	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	42,774,633	42,774,633

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17392133	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17392133	Submitted genomic		NC_000002.12:g.425 47493_42547494ins2 99	GRCh38 (hg38)		NC_000002.12	Chr2	42,547,493	42,547,493
nssv17392133	Remapped	Perfect	NC_000002.11:g.427 74633_42774634ins2 99	GRCh37.p13	First Pass	NC_000002.11	Chr2	42,774,633	42,774,633

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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