A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069705



Internal ID18974561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121578994..121580595hg38UCSC Ensembl
chr12:122016899..122018500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768552
SamplesKWP1
Known GenesKDM2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069705
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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