A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170243



Internal ID21314304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113567390..113581156hg38UCSC Ensembl
Outerchr5:113559977..113591178hg38UCSC Ensembl
Innerchr5:112903087..112916853hg19UCSC Ensembl
Outerchr5:112895674..112926875hg19UCSC Ensembl
Innerchr5:112930986..112944752hg18UCSC Ensembl
Outerchr5:112923573..112954774hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3831202
hg1931202
hg1831202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14241779
SamplesNGO_14
Known GenesYTHDC2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170243
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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