A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6894



Internal ID15536969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:197940140..197972611hg38UCSC Ensembl
Outerchr2:198804864..198837335hg19UCSC Ensembl
Outerchr2:198513109..198545580hg18UCSC Ensembl
Outerchr2:198630370..198662841hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386966
hg196966
hg186966
hg176966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3100
Supporting Variants
SamplesNA12156
Known GenesPLCL1
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)nssv6894
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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