A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3649261



Internal ID18947542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176131539..176269841hg38UCSC Ensembl
Innerchr5:175558542..175696844hg19UCSC Ensembl
Innerchr5:175491148..175629450hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38138303
hg19138303
hg18138303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031669
Supporting Variants
Samples
Known GenesLOC643201, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3649261
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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