A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112623



Internal ID18924170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123911053..123912553hg38UCSC Ensembl
Outerchr12:124395600..124397100hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv887n106
Supporting Variantsnssv3966733
SamplesKWS2
Known GenesDNAH10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112623
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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