A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557703



Internal ID15998426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20613625..20630827hg38UCSC Ensembl
Innerchr12:20766559..20783761hg19UCSC Ensembl
Innerchr12:20657826..20675028hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3817203
hg1917203
hg1817203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175439
Samples1780862001_A
Known GenesPDE3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557703
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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