A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264057



Internal ID22268701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36519904..36541814hg38UCSC Ensembl
Outerchr2:36747047..36768957hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3821911
hg1921911
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207265
Supporting Variants
SamplesNA19238
Known GenesCRIM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264057
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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