A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4013



Internal ID15538740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13161206..13194011hg38UCSC Ensembl
Outerchr12:13314140..13346945hg19UCSC Ensembl
Outerchr12:13205407..13238212hg18UCSC Ensembl
Outerchr12:13205407..13238212hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg386930
hg196930
hg186930
hg176930
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv613
Supporting Variants
SamplesNA12878
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)nssv4013
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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