A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6486



Internal ID15190692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2236165..2257400hg38UCSC Ensembl
Outerchr12:2345331..2366566hg19UCSC Ensembl
Outerchr12:2215592..2236827hg18UCSC Ensembl
Outerchr12:2215592..2236827hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387883
hg197883
hg187883
hg177883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575
Supporting Variants
SamplesNA12156
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)nssv6486
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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