A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004973



Internal ID19094190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125688096..125890119hg38UCSC Ensembl
Innerchr3:125406940..125608962hg19UCSC Ensembl
Innerchr3:126889630..127091652hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38202024
hg19202023
hg18202023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4848n100
Supporting Variantsnssv3736401, nssv3736400
Samples
Known GenesMIR548I1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004973
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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