A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114680



Internal ID18940531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35058563..35058623hg38UCSC Ensembl
Outerchr5:35058667..35058727hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974585, nssv3957258
SamplesKWS1, KWS2
Known GenesPRLR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114680
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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