A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125712



Internal ID19270462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:197898724..197899910hg38UCSC Ensembl
Outerchr2:198763448..198764634hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381187
hg191187
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983919, nssv3961987
SamplesKWS2, KWS1
Known GenesPLCL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125712
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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