A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248470



Internal ID21310318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32172387hg38UCSC Ensembl
Outerchr5:32102625..32177678hg38UCSC Ensembl
Innerchr5:32107084..32172493hg19UCSC Ensembl
Outerchr5:32102731..32177784hg19UCSC Ensembl
Innerchr5:32142841..32208250hg18UCSC Ensembl
Outerchr5:32138488..32213541hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3875054
hg1975054
hg1875054
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169700
Supporting Variants
SamplesNGO_7
Known GenesGOLPH3, PDZD2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248470
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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