A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647007



Internal ID18598602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:109627949..109731218hg38UCSC Ensembl
Innerchr5:108963650..109066919hg19UCSC Ensembl
Innerchr5:108991549..109094818hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38103270
hg19103270
hg18103270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025801
Supporting Variants
Samples
Known GenesMAN2A1, MIR548C, MIR548Z
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3647007
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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