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dbVar

Database of genomic structural variation

nsv5974664

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: 271 SVs from 21 studies. See in: genome view

Submitted genomic12,549,427-12,549,427

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5974664	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	12,549,427	12,549,427
nsv5974664	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	12,549,426	12,549,426

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17372345	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17372345	Submitted genomic		NC_000018.10:g.125 49427_12549428ins1 71	GRCh38 (hg38)		NC_000018.10	Chr18	12,549,427	12,549,427
nssv17372345	Remapped	Perfect	NC_000018.9:g.1254 9426_12549427ins17 1	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,549,426	12,549,426

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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