A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265525



Internal ID22146107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166981417..167016149hg38UCSC Ensembl
Outerchr2:167837927..167872659hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3834733
hg1934733
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193740
Supporting Variants
SamplesHG00514
Known GenesXIRP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265525
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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