A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170127



Internal ID21314188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78628970..78633453hg38UCSC Ensembl
Outerchr13:78628317..78633509hg38UCSC Ensembl
Innerchr13:79203105..79207588hg19UCSC Ensembl
Outerchr13:79202452..79207644hg19UCSC Ensembl
Innerchr13:78101106..78105589hg18UCSC Ensembl
Outerchr13:78100453..78105645hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg385193
hg195193
hg185193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14250086
SamplesNGO_43
Known GenesRNF219
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170127
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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