A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274844



Internal ID22198371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111575368..111597705hg38UCSC Ensembl
Outerchr6:111896571..111918908hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3822338
hg1922338
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202554
Supporting Variants
SamplesHG00732
Known GenesTRAF3IP2, TRAF3IP2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274844
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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