A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3772469



Internal ID19315037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12724665..12726366hg38UCSC Ensembl
chr12:12877599..12879300hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1070514
Supporting Variants
SamplesKWP1
Known GenesAPOLD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3772469
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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