A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5420



Internal ID15196925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:48795148..48828796hg38UCSC Ensembl
Outerchr12:49188931..49222579hg19UCSC Ensembl
Outerchr12:47475198..47508846hg18UCSC Ensembl
Outerchr12:47475198..47508846hg17UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385618
hg195618
hg185618
hg175618
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv698
Supporting Variants
SamplesNA19129
Known GenesCACNB3
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)nssv5420
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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