A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266134



Internal ID22121100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:62722356..62732466hg38UCSC Ensembl
Outerchr2:62949491..62959601hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38788
hg19788
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222474
Supporting Variants
SamplesHG00512
Known GenesEHBP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266134
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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