A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595393



Internal ID16382802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128060982..128091483hg38UCSC Ensembl
Innerchr4:128982137..129012638hg19UCSC Ensembl
Innerchr4:129201587..129232088hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3830502
hg1930502
hg1830502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9259n54
Supporting Variantsnssv1006247
Samples
Known GenesLARP1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595393
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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