A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264635



Internal ID22227194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:99486309..99497236hg38UCSC Ensembl
Outerchr2:100102771..100113698hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3810928
hg1910928
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202174
Supporting Variants
SamplesHG00733
Known GenesREV1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264635
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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