A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242590



Internal ID21308368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32114071..32158349hg38UCSC Ensembl
Outerchr5:32109483..32170181hg38UCSC Ensembl
Innerchr5:32114177..32158455hg19UCSC Ensembl
Outerchr5:32109589..32170287hg19UCSC Ensembl
Innerchr5:32149934..32194212hg18UCSC Ensembl
Outerchr5:32145346..32206044hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3860699
hg1960699
hg1860699
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169700
Supporting Variants
SamplesNGO_41
Known GenesGOLPH3, PDZD2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242590
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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