A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281960



Internal ID22199728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137564223..137574838hg38UCSC Ensembl
Outerchr9:140458675..140469290hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3810616
hg1910616
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222254
Supporting Variants
SamplesHG00732
Known GenesDPH7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281960
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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