A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv692



Internal ID15205191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46624689..46655712hg38UCSC Ensembl
Outerchr12:47018472..47049495hg19UCSC Ensembl
Outerchr12:45304739..45335762hg18UCSC Ensembl
Outerchr12:45304739..45335762hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3831024
hg1931024
hg1831024
hg1731024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1082, nssv1995, nssv5419
SamplesNA19129, NA19240, NA18555
Known Genes
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)nsv692
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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