A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2931



Internal ID15547494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:132868245..132913390hg38UCSC Ensembl
Outerchr2:133625818..133670963hg19UCSC Ensembl
Outerchr2:133342288..133387433hg18UCSC Ensembl
Outerchr2:133459550..133504695hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3845146
hg1945146
hg1845146
hg1745146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7555
SamplesNA12156
Known GenesMIR7853, NCKAP5
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)nsv2931
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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