A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148167



Internal ID18855695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:313785..314970hg38UCSC Ensembl
Outerchr5:313900..315085hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381186
hg191186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001677
SamplesKWB1
Known GenesAHRR, PDCD6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148167
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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