A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1120



Internal ID15197943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116849419..116884372hg38UCSC Ensembl
Outerchr12:117287224..117322177hg19UCSC Ensembl
Outerchr12:115771607..115806560hg18UCSC Ensembl
Outerchr12:115749944..115784897hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg386043
hg196043
hg186043
hg176043
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv898
Supporting Variants
SamplesNA19240
Known GenesHRK, RNFT2
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)nssv1120
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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