A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220605



Internal ID22365258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:11512951..11531952hg38UCSC Ensembl
Outerchr1:11573008..11592009hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381430
hg191430
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273457, nssv14273459, nssv14273458, nssv14273460
SamplesHG00731, HG00732, HG00733, HG00514
Known GenesPTCHD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220605
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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