A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264442



Internal ID22275978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:74614753..74635485hg38UCSC Ensembl
Outerchr2:74841880..74862612hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3820733
hg1920733
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195887
Supporting Variants
SamplesNA19239
Known GenesM1AP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264442
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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