A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261206



Internal ID22119516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6451602..6463559hg38UCSC Ensembl
Outerchr17:6354922..6366879hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38666
hg19666
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242722
Supporting Variants
SamplesHG00512
Known GenesPITPNM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261206
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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