A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10848



Internal ID15195264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2230021..2260076hg38UCSC Ensembl
Outerchr12:2339187..2369242hg19UCSC Ensembl
Outerchr12:2209448..2239503hg18UCSC Ensembl
Outerchr12:2209448..2239503hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387661
hg197661
hg187661
hg177661
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575
Supporting Variants
SamplesNA18956
Known GenesCACNA1C
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)nssv10848
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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