A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055100



Internal ID19144319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19338268..19423521hg38UCSC Ensembl
Innerchr12:19491202..19576455hg19UCSC Ensembl
Innerchr12:19382469..19467722hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3885254
hg1985254
hg1885254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1399n100
Supporting Variantsnssv3518108
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055100
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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