A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043204



Internal ID19132423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84076117..84308291hg38UCSC Ensembl
Innerchr12:84469896..84702070hg19UCSC Ensembl
Innerchr12:82994027..83226201hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38232175
hg19232175
hg18232175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524750, nssv3524749, nssv3524751
Samples
Known GenesMIR548T
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043204
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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