A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5455



Internal ID15543952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116653815..116687410hg38UCSC Ensembl
Outerchr12:117091620..117125215hg19UCSC Ensembl
Outerchr12:115576003..115609598hg18UCSC Ensembl
Outerchr12:115554340..115587935hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg385686
hg195686
hg185686
hg175686
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv897
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)nssv5455
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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