A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136959



Internal ID18908768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1276654..1276707hg38UCSC Ensembl
Outerchr5:1276769..1276822hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974075, nssv3957600
SamplesKWS1, KWS2
Known GenesTERT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136959
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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