A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120254



Internal ID18906949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2255793..2256063hg38UCSC Ensembl
Outerchr12:2364959..2365229hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961047
SamplesKWS1
Known GenesCACNA1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120254
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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