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dbVar

Database of genomic structural variation

nsv6836690

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:308

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: 149 SVs from 47 studies. See in: genome view

Submitted genomic127,980,112-127,980,419

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6836690	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	127,980,112	127,980,419
nsv6836690	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	127,620,165	127,620,472

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18538138	deletion	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
nssv18538138	Submitted genomic		NC_000007.14:g.127 980112_127980419de l	GRCh38 (hg38)		NC_000007.14	Chr7	127,980,112	127,980,419
nssv18538138	Remapped	Perfect	NC_000007.13:g.127 620165_127620472de l	GRCh37.p13	First Pass	NC_000007.13	Chr7	127,620,165	127,620,472

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)
nssv18538138	0.75	197827	264868

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