A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004261



Internal ID19093478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125705616..125910985hg38UCSC Ensembl
Innerchr3:125424460..125629828hg19UCSC Ensembl
Innerchr3:126907150..127112518hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38205370
hg19205369
hg18205369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4848n100
Supporting Variantsnssv3736403, nssv3736405, nssv3736404
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)nsv1004261
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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