A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125557



Internal ID18932870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101910993..101911060hg38UCSC Ensembl
Outerchr12:102304771..102304838hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983738
SamplesKWS2
Known GenesDRAM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125557
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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