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dbVar

Database of genomic structural variation

nsv6525397

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:10,674

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

Submitted genomic36,395,629-36,406,302

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6525397	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	36,395,629	36,406,302
nsv6525397	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	36,886,531	36,897,204

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18046355	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18046355	Submitted genomic		NC_000019.10:g.363 95629_36406302del	GRCh38 (hg38)		NC_000019.10	Chr19	36,395,629	36,406,302
nssv18046355	Remapped	Perfect	NC_000019.9:g.3688 6531_36897204del	GRCh37.p13	First Pass	NC_000019.9	Chr19	36,886,531	36,897,204

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18046355	<0.001	1	39160

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