A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249508



Internal ID21310164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60697464..60770760hg38UCSC Ensembl
Outerchr5:60694030..60771723hg38UCSC Ensembl
Innerchr5:59993291..60066587hg19UCSC Ensembl
Outerchr5:59989857..60067550hg19UCSC Ensembl
Innerchr5:60029048..60102344hg18UCSC Ensembl
Outerchr5:60025614..60103307hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3877694
hg1977694
hg1877694
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169653
Supporting Variants
SamplesNGO_55
Known GenesDEPDC1B, ELOVL7
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249508
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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