A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265468



Internal ID22120826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:19718760..19746954hg38UCSC Ensembl
Outerchr2:19918521..19946715hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3828195
hg1928195
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193026
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265468
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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