A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10898



Internal ID15192800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2250065..2270617hg38UCSC Ensembl
Outerchr12:2359231..2379783hg19UCSC Ensembl
Outerchr12:2229492..2250044hg18UCSC Ensembl
Outerchr12:2229492..2250044hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg388631
hg198631
hg188631
hg178631
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575
Supporting Variants
SamplesNA15510
Known GenesCACNA1C, CACNA1C-IT3
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)nssv10898
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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