A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005186



Internal ID18747717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:21989661..24089392hg38UCSC Ensembl
Innerchr3:22031153..24130883hg19UCSC Ensembl
Innerchr3:22006157..24105887hg18UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg382099732
hg192099731
hg182099731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589476
Samples
Known GenesMIR548AC, NKIRAS1, NR1D2, RPL15, UBE2E1, UBE2E2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005186
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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