A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131045



Internal ID18905296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111325596..111326496hg38UCSC Ensembl
Outerchr12:111763400..111764300hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989761, nssv3980920
SamplesKWS1, KWS2
Known GenesCUX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131045
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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