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dbVar

Database of genomic structural variation

nsv6489124

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:62,869

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: 281 SVs from 31 studies. See in: genome view

Submitted genomic99,160,750-99,223,618

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6489124	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	99,160,750	99,223,618
nsv6489124	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	99,813,004	99,875,872

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18016395	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18016395	Submitted genomic		NC_000013.11:g.991 60750_99223618del	GRCh38 (hg38)		NC_000013.11	Chr13	99,160,750	99,223,618
nssv18016395	Remapped	Perfect	NC_000013.10:g.998 13004_99875872del	GRCh37.p13	First Pass	NC_000013.10	Chr13	99,813,004	99,875,872

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)
nssv18016395	<0.001	1	38948

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