A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3649238



Internal ID18600833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176050105..176241562hg38UCSC Ensembl
Innerchr5:175477108..175668565hg19UCSC Ensembl
Innerchr5:175409714..175601171hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38191458
hg19191458
hg18191458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029384
Supporting Variants
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3649238
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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