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dbVar

Database of genomic structural variation

nsv5969276

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: 137 SVs from 18 studies. See in: genome view

Submitted genomic49,320,942-49,320,942

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5969276	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	49,320,942	49,320,942
nsv5969276	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	47,398,304	47,398,304

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17373675	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17373675	Submitted genomic		NC_000017.11:g.493 20942_49320943ins1 48	GRCh38 (hg38)		NC_000017.11	Chr17	49,320,942	49,320,942
nssv17373675	Remapped	Perfect	NC_000017.10:g.473 98304_47398305ins1 48	GRCh37.p13	First Pass	NC_000017.10	Chr17	47,398,304	47,398,304

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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