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dbVar

Database of genomic structural variation

nsv5594450

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:52

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: 80 SVs from 19 studies. See in: genome view

Submitted genomic51,495,202-51,495,253

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5594450	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	51,495,202	51,495,253
nsv5594450	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	51,998,456	51,998,507

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17106049	deletion	SAMN00006580	Sequencing	Sequence alignment	9,409

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17106049	Submitted genomic		NC_000019.10:g.514 95202_51495253delC	GRCh38 (hg38)		NC_000019.10	Chr19	51,495,202	51,495,253
nssv17106049	Remapped	Perfect	NC_000019.9:g.5199 8456_51998507delC	GRCh37.p13	First Pass	NC_000019.9	Chr19	51,998,456	51,998,507

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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