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dbVar

Database of genomic structural variation

nsv7012758

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:3,300

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: 170 SVs from 16 studies. See in: genome view

Submitted genomic56,153,801-56,157,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7012758	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	56,153,801	56,157,100
nsv7012758	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	53,821,032	53,824,331

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18635699	duplication	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18635699	Submitted genomic		NC_000018.10:g.561 53801_56157100dup	GRCh38 (hg38)		NC_000018.10	Chr18	56,153,801	56,157,100
nssv18635699	Remapped	Perfect	NC_000018.9:g.5382 1032_53824331dup	GRCh37.p13	First Pass	NC_000018.9	Chr18	53,821,032	53,824,331

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)
nssv18635699	0.002	415	263014

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