A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257051



Internal ID22325207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:31950054..31968065hg38UCSC Ensembl
Outerchr13:32524191..32542202hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3818012
hg1918012
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215945
Supporting Variants
SamplesNA19240
Known GenesEEF1DP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257051
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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