A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169700



Internal ID21313511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32102625..32172387hg38UCSC Ensembl
Outerchr5:32101294..32177678hg38UCSC Ensembl
Innerchr5:32102731..32172493hg19UCSC Ensembl
Outerchr5:32101400..32177784hg19UCSC Ensembl
Innerchr5:32138488..32208250hg18UCSC Ensembl
Outerchr5:32137157..32213541hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3876385
hg1976385
hg1876385
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14250841, nssv14248470, nssv14242590, nssv14246351, nssv14251067, nssv14252070, nssv14250804, nssv14244884, nssv14248122, nssv14251014
SamplesMLY_15, NGO_41, NGO_53, NGO_46, NGO_4, NGO_43, MLY_16, NGO_49, NGO_42, NGO_7
Known GenesGOLPH3, PDZD2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169700
Frequency
Sample Size93
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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