A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3035



Internal ID15200918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172554330..172599173hg38UCSC Ensembl
Outerchr2:173419058..173463901hg19UCSC Ensembl
Outerchr2:173127304..173172147hg18UCSC Ensembl
Outerchr2:173244565..173289408hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3844844
hg1944844
hg1844844
hg1744844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7578
SamplesNA12156
Known GenesPDK1
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)nsv3035
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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