A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142814



Internal ID19278368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:109867991..109868223hg38UCSC Ensembl
Outerchr12:110305796..110306028hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993651, nssv3962285
SamplesKWS2, KWS1
Known GenesGLTP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142814
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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