A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231292



Internal ID22372192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8895315..8901443hg38UCSC Ensembl
Outerchr19:9005991..9012119hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3815158
hg1915158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262602, nssv14262604, nssv14262603, nssv14262597, nssv14262601, nssv14262596, nssv14262600, nssv14262599, nssv14262598
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMUC16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231292
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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