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dbVar

Database of genomic structural variation

nsv5565514

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:55

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: 145 SVs from 38 studies. See in: genome view

Submitted genomic47,118,401-47,118,455

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5565514	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	47,118,401	47,118,455
nsv5565514	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	47,584,073	47,584,127

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17065966	deletion	HG02587	Sequencing	Sequence alignment	2,330

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17065966	Submitted genomic		NC_000001.11:g.471 18401_47118455delA	GRCh38 (hg38)		NC_000001.11	Chr1	47,118,401	47,118,455
nssv17065966	Remapped	Perfect	NC_000001.10:g.475 84073_47584127delA	GRCh37.p13	First Pass	NC_000001.10	Chr1	47,584,073	47,584,127

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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