A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5453



Internal ID15544163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114155720..114187632hg38UCSC Ensembl
Outerchr12:114593525..114625437hg19UCSC Ensembl
Outerchr12:113077908..113109820hg18UCSC Ensembl
Outerchr12:113056245..113088157hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg387374
hg197374
hg187374
hg177374
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv894
Supporting Variants
SamplesNA19129
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)nssv5453
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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