A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125561



Internal ID18925777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122256332..122256390hg38UCSC Ensembl
Outerchr12:122740879..122740937hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983742
SamplesKWS2
Known GenesVPS33A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125561
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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