A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192419



Internal ID22343008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169746188..169795185hg38UCSC Ensembl
Outerchr2:170602698..170651695hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3848998
hg1948998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264350, nssv14264349, nssv14264342, nssv14264343, nssv14264346, nssv14264348, nssv14264347, nssv14264344, nssv14264345
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKLHL23, PHOSPHO2-KLHL23
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192419
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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