A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068116



Internal ID19320281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6579041..6579198hg38UCSC Ensembl
chr12:6688207..6688364hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762143
SamplesKWP1
Known GenesCHD4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068116
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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