A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7506



Internal ID15189672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73204726..73249541hg38UCSC Ensembl
Outerchr2:73431854..73476669hg19UCSC Ensembl
Outerchr2:73285362..73330177hg18UCSC Ensembl
Outerchr2:73343509..73388324hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3844816
hg1944816
hg1844816
hg1744816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2776
Supporting Variants
SamplesNA12156
Known GenesCCT7, NOTO, PRADC1, SMYD5
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)nssv7506
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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