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dbVar

Database of genomic structural variation

nsv5578937

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:167

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: 875 SVs from 66 studies. See in: genome view

Submitted genomic1,733,347-1,733,513

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5578937	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	1,733,347	1,733,513
nsv5578937	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	1,664,786	1,664,952

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17061593	deletion	HG01114	Sequencing	Sequence alignment	977

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17061593	Submitted genomic		NC_000001.11:g.173 3347_1733513delA	GRCh38 (hg38)		NC_000001.11	Chr1	1,733,347	1,733,513
nssv17061593	Remapped	Perfect	NC_000001.10:g.166 4786_1664952delA	GRCh37.p13	First Pass	NC_000001.10	Chr1	1,664,786	1,664,952

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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