A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595446



Internal ID16382855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:132239100..132371967hg38UCSC Ensembl
Innerchr4:133160255..133293122hg19UCSC Ensembl
Innerchr4:133379705..133512572hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38132868
hg19132868
hg18132868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153168
SamplesHGDP01167
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595446
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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