A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147



Internal ID15199024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:100679178..100724112hg38UCSC Ensembl
Outerchr13:101331432..101376366hg19UCSC Ensembl
Outerchr13:100129433..100174367hg18UCSC Ensembl
Outerchr13:100129433..100174367hg17UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3844935
hg1944935
hg1844935
hg1744935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9155
SamplesNA12156
Known GenesNALCN-AS1
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)nsv1147
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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