A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273329



Internal ID22185856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:148169613..148181337hg38UCSC Ensembl
Outerchr5:147549176..147560900hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3811725
hg1911725
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191695
Supporting Variants
SamplesHG00731
Known GenesSPINK14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273329
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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