A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557690



Internal ID16345099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19316144..19432926hg38UCSC Ensembl
Innerchr12:19469078..19585860hg19UCSC Ensembl
Innerchr12:19360345..19477127hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38116783
hg19116783
hg18116783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2397n54
Supporting Variantsnssv1175437
Samples1780862111_A
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557690
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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