A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv924



Internal ID15552945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:126282572..126322345hg38UCSC Ensembl
Outerchr12:126767118..126806891hg19UCSC Ensembl
Outerchr12:125333071..125372844hg18UCSC Ensembl
Outerchr12:125291998..125331771hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg387776
hg197776
hg187776
hg177776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6538, nssv5458, nssv1126
SamplesNA12156, NA19240, NA19129
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)nsv924
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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