A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231537



Internal ID22372252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134651921..134717188hg38UCSC Ensembl
Outerchr9:137543767..137609034hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381172
hg191172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281419, nssv14281416, nssv14281418, nssv14281414, nssv14281415, nssv14281420, nssv14281417
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCOL5A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231537
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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