A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv935



Internal ID15552956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129854313..129899281hg38UCSC Ensembl
Outerchr12:130338858..130383826hg19UCSC Ensembl
Outerchr12:128904811..128949779hg18UCSC Ensembl
Outerchr12:128863738..128908706hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3844969
hg1944969
hg1844969
hg1744969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5463
SamplesNA19129
Known GenesTMEM132D
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv935
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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