A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224547



Internal ID22367948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32769851..32773000hg38UCSC Ensembl
chr18:30349814..30352963hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg383150
hg193150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283316, nssv14283313, nssv14283312, nssv14283320, nssv14283319, nssv14283314, nssv14283317, nssv14283315, nssv14283318
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKLHL14
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224547
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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