A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135793



Internal ID19280855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103984911..103985616hg38UCSC Ensembl
Outerchr12:104378689..104379394hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989381
SamplesKWS2
Known GenesTDG
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135793
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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