A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228040



Internal ID22370348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116533001..116535700hg38UCSC Ensembl
chr12:116970806..116973505hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367177, nssv14367171, nssv14367173, nssv14367178, nssv14367174, nssv14367175, nssv14367176, nssv14367179, nssv14367172
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00173
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228040
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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