A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273657



Internal ID22193954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7370070..7375051hg38UCSC Ensembl
Outerchr5:7370183..7375164hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg384982
hg194982
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200127
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273657
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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