A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593103



Internal ID16380512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196968834..196969810hg38UCSC Ensembl
Innerchr3:196695705..196696681hg19UCSC Ensembl
Innerchr3:198180102..198181078hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38977
hg19977
hg18977
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8853n54
Supporting Variantsnssv987019, nssv987022, nssv987021, nssv987020, nssv987018
Samples
Known GenesPIGZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593103
Frequency
Sample Size17421
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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