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dbVar

Database of genomic structural variation

nsv5948994

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: 93 SVs from 19 studies. See in: genome view

Submitted genomic11,248,708-11,248,708

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5948994	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	11,248,708	11,248,708
nsv5948994	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	11,388,834	11,388,834

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17398871	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17398871	Submitted genomic		NC_000002.12:g.112 48708_11248709ins1 83	GRCh38 (hg38)		NC_000002.12	Chr2	11,248,708	11,248,708
nssv17398871	Remapped	Perfect	NC_000002.11:g.113 88834_11388835ins1 83	GRCh37.p13	First Pass	NC_000002.11	Chr2	11,388,834	11,388,834

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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