A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252070



Internal ID21302648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32102625..32158349hg38UCSC Ensembl
Outerchr5:32101294..32170181hg38UCSC Ensembl
Innerchr5:32102731..32158455hg19UCSC Ensembl
Outerchr5:32101400..32170287hg19UCSC Ensembl
Innerchr5:32138488..32194212hg18UCSC Ensembl
Outerchr5:32137157..32206044hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3868888
hg1968888
hg1868888
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169700
Supporting Variants
SamplesMLY_16
Known GenesGOLPH3, PDZD2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14252070
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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