A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116712



Internal ID18919430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123945973..123946025hg38UCSC Ensembl
Outerchr12:124430520..124430572hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979273
SamplesKWS2
Known GenesCCDC92
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116712
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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