A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2776



Internal ID15200653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73204726..73255176hg38UCSC Ensembl
Outerchr2:73431854..73482304hg19UCSC Ensembl
Outerchr2:73285362..73335812hg18UCSC Ensembl
Outerchr2:73343509..73393959hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3850451
hg1950451
hg1850451
hg1750451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4423, nssv7506
SamplesNA12156, NA12878
Known GenesCCT7, FBXO41, 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)nsv2776
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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