A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283014



Internal ID22120267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:42607576..42636585hg38UCSC Ensembl
Outerchr9:44284380..44313193hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg385787
hg195787
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232207
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283014
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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