A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010243



Internal ID19099461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125724753..125841678hg38UCSC Ensembl
Innerchr3:125443596..125560521hg19UCSC Ensembl
Innerchr3:126926286..127043211hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38116926
hg19116926
hg18116926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4849n100
Supporting Variantsnssv3604537
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)nsv1010243
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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