A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3487531



Internal ID18728486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117049372..117442154hg38UCSC Ensembl
Innerchr1:117591994..117984776hg19UCSC Ensembl
Innerchr1:117393517..117786299hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38392783
hg19392783
hg18392783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009706
Supporting Variants
Samples
Known GenesMAN1A2, MIR942, TRIM45, TTF2, VTCN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3487531
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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