A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215604



Internal ID22361877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113130651..113135600hg38UCSC Ensembl
chr12:113568456..113573405hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg384950
hg194950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366438, nssv14366439, nssv14366436, nssv14366432, nssv14366434, nssv14366437, nssv14366431, nssv14366435, nssv14366433
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRASAL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215604
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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