A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281976



Internal ID22199731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128636753..128663988hg38UCSC Ensembl
Outerchr9:131399032..131426267hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3827236
hg1927236
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213861
Supporting Variants
SamplesHG00732
Known GenesWDR34
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281976
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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