A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244884



Internal ID21302453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32158349hg38UCSC Ensembl
Outerchr5:32102625..32170181hg38UCSC Ensembl
Innerchr5:32107084..32158455hg19UCSC Ensembl
Outerchr5:32102731..32170287hg19UCSC Ensembl
Innerchr5:32142841..32194212hg18UCSC Ensembl
Outerchr5:32138488..32206044hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3867557
hg1967557
hg1867557
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169700
Supporting Variants
SamplesMLY_15
Known GenesGOLPH3, PDZD2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244884
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer