A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv636



Internal ID8518243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20889205..20921722hg38UCSC Ensembl
Outerchr12:21042139..21074656hg19UCSC Ensembl
Outerchr12:20933406..20965923hg18UCSC Ensembl
Outerchr12:20933406..20965923hg17UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg386986
hg196986
hg186986
hg176986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10855
SamplesNA18956
Known GenesSLCO1B3
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)nsv636
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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