A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011550



Internal ID18754084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151790048..151825513hg38UCSC Ensembl
Innerchr3:151507836..151543301hg19UCSC Ensembl
Innerchr3:152990526..153025991hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3835466
hg1935466
hg1835466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4921n100
Supporting Variantsnssv3606172, nssv3606173
Samples
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011550
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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