A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030767



Internal ID18773298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154674..457840hg38UCSC Ensembl
Innerchr5:154789..457955hg19UCSC Ensembl
Innerchr5:207789..510955hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38303167
hg19303167
hg18303167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3633213
Samples
Known GenesAHRR, C5orf55, CCDC127, EXOC3, LOC102467073, LRRC14B, PDCD6, PLEKHG4B, SDHA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030767
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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