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dbVar

Database of genomic structural variation

nsv5604700

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: 101 SVs from 27 studies. See in: genome view

Submitted genomic20,498,394-20,498,394

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5604700	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	20,498,394	20,498,394
nsv5604700	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	20,824,887	20,824,887

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17062216	insertion	SAMN00004622	Sequencing	Sequence alignment	1,208

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17062216	Submitted genomic		NC_000001.11:g.204 98394_20498395ins5 3	GRCh38 (hg38)		NC_000001.11	Chr1	20,498,394	20,498,394
nssv17062216	Remapped	Perfect	NC_000001.10:g.208 24887_20824888ins5 3	GRCh37.p13	First Pass	NC_000001.10	Chr1	20,824,887	20,824,887

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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