A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070135



Internal ID18978350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121851729..121852048hg38UCSC Ensembl
chr12:122289635..122289954hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770727
SamplesKWP1
Known GenesHPD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070135
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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