A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224270



Internal ID22367751
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274010, nssv14274011
SamplesHG00731, HG00732
Known GenesPTCHD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224270
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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