A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126056



Internal ID18919193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:307212..307277hg38UCSC Ensembl
Outerchr5:307327..307392hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984264
SamplesKWS1
Known GenesAHRR, PDCD6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126056
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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