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dbVar

Database of genomic structural variation

nsv5618117

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

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

Publication(s):Ebert et al. 2021

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: 801 SVs from 53 studies. See in: genome view

Submitted genomic1,284,147-1,284,147

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5618117	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	1,284,147	1,284,147
nsv5618117	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	1,219,527	1,219,527

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17060373	insertion	SAMN00006466	Sequencing	Sequence alignment	4,625

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17060373	Submitted genomic		NC_000001.11:g.128 4147_1284148ins80	GRCh38 (hg38)		NC_000001.11	Chr1	1,284,147	1,284,147
nssv17060373	Remapped	Perfect	NC_000001.10:g.121 9527_1219528ins80	GRCh37.p13	First Pass	NC_000001.10	Chr1	1,219,527	1,219,527

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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