A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125541



Internal ID18937405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12116932..12116989hg38UCSC Ensembl
Outerchr12:12269866..12269923hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983722
SamplesKWS2
Known GenesLRP6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125541
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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