A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274804



Internal ID22188455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:154297938..154303452hg38UCSC Ensembl
Outerchr6:154619072..154624586hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg385515
hg195515
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206845
Supporting Variants
SamplesHG00731
Known GenesIPCEF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274804
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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