A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169955



Internal ID21314016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177191883..177322159hg38UCSC Ensembl
Outerchr5:177191023..177327664hg38UCSC Ensembl
Innerchr5:176618884..176749160hg19UCSC Ensembl
Outerchr5:176618024..176754665hg19UCSC Ensembl
Innerchr5:176551490..176681766hg18UCSC Ensembl
Outerchr5:176550630..176687271hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38136642
hg19136642
hg18136642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14246116
SamplesPML_1
Known GenesMXD3, NSD1, PRELID1, RAB24
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169955
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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