A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv986990



Internal ID16280946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196968637..196969810hg38UCSC Ensembl
Innerchr3:196695508..196696681hg19UCSC Ensembl
Innerchr3:198179905..198181078hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381174
hg191174
hg181174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593094
Supporting Variants
Samples
Known GenesPIGZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv986990
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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