A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204383



Internal ID22353240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137676345..137689062hg38UCSC Ensembl
Outerchr5:137012034..137024751hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3812718
hg1912718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273322, nssv14273320, nssv14273327, nssv14273323, nssv14273326, nssv14273321, nssv14273325, nssv14273324
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKLHL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204383
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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