A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281419



Internal ID22220052
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231537
Supporting Variants
SamplesHG00733
Known GenesCOL5A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281419
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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