A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271471



Internal ID22152115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155168654..155207840hg38UCSC Ensembl
Outerchr1:155141130..155177631hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3839187
hg1936502
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197553
Supporting Variants
SamplesHG00514
Known GenesKRTCAP2, MIR92B, MUC1, THBS3, TRIM46
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271471
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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