A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5424



Internal ID15196845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55330007..55352417hg38UCSC Ensembl
Outerchr12:55723791..55746201hg19UCSC Ensembl
Outerchr12:54010058..54032468hg18UCSC Ensembl
Outerchr12:54010058..54032468hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg388238
hg198238
hg188238
hg178238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv718
Supporting Variants
SamplesNA19129
Known GenesOR6C3
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)nssv5424
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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