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dbVar

Database of genomic structural variation

nsv5947695

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: 257 SVs from 30 studies. See in: genome view

Submitted genomic42,047,748-42,047,748

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5947695	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	42,047,748	42,047,748
nsv5947695	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	42,274,888	42,274,888

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17404064	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17404064	Submitted genomic		NC_000002.12:g.420 47748_42047749ins5 1	GRCh38 (hg38)		NC_000002.12	Chr2	42,047,748	42,047,748
nssv17404064	Remapped	Perfect	NC_000002.11:g.422 74888_42274889ins5 1	GRCh37.p13	First Pass	NC_000002.11	Chr2	42,274,888	42,274,888

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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