A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274010



Internal ID22186613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:11497787..11527329hg38UCSC Ensembl
Outerchr1:11557844..11587386hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38839
hg19839
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224270
Supporting Variants
SamplesHG00731
Known GenesPTCHD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274010
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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