A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3611383



Internal ID18562978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195532487..195747880hg38UCSC Ensembl
Innerchr3:195259289..195474751hg19UCSC Ensembl
Innerchr3:196740578..196960422hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38215394
hg19215463
hg18219845
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005951
Supporting Variants
Samples
Known GenesAPOD, MIR570, MUC20, MUC4, PPP1R2, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3611383
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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