A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131050



Internal ID19284751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123388653..123389553hg38UCSC Ensembl
Outerchr12:123873200..123874100hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv885n106
Supporting Variantsnssv3967754
SamplesKWS2
Known GenesSETD8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131050
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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