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dbVar

Database of genomic structural variation

nsv6783600

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:54,156

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: 169 SVs from 35 studies. See in: genome view

Submitted genomic140,306,014-140,360,169

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6783600	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	140,306,014	140,360,169
nsv6783600	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	139,685,599	139,739,754

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18695529	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
nssv18695529	Submitted genomic		NC_000005.10:g.140 306014_140360169du p	GRCh38 (hg38)		NC_000005.10	Chr5	140,306,014	140,360,169
nssv18695529	Remapped	Perfect	NC_000005.9:g.1396 85599_139739754dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	139,685,599	139,739,754

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)
nssv18695529	4e-06	1	276040

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