A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116714



Internal ID18910076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124333856..124333992hg38UCSC Ensembl
Outerchr12:124818402..124818538hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979275
SamplesKWS2
Known GenesNCOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116714
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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