A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557676



Internal ID16345085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19277698..19387160hg38UCSC Ensembl
Innerchr12:19430632..19540094hg19UCSC Ensembl
Innerchr12:19321899..19431361hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38109463
hg19109463
hg18109463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2396n54
Supporting Variantsnssv1176254
Samples1780862015_A
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557676
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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