A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265596



Internal ID22186596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:160565049..160598825hg38UCSC Ensembl
Outerchr2:161421560..161455336hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211506
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265596
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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