A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135428



Internal ID18920792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:12130997..12131321hg38UCSC Ensembl
Outerchr11:12152544..12152868hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv588n106
Supporting Variantsnssv3964968, nssv3964326
SamplesKWS2, KWS1
Known GenesMICAL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135428
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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