A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197553



Internal ID22347420
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271472, nssv14271474, nssv14271471, nssv14271473, nssv14271470
SamplesNA19238, HG00731, HG00733, HG00513, HG00514
Known GenesKRTCAP2, MIR92B, MUC1, THBS3, TRIM46
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197553
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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