A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593629



Internal ID16034352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8269524..8270229hg38UCSC Ensembl
Innerchr4:8271251..8271956hg19UCSC Ensembl
Innerchr4:8322151..8322856hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38706
hg19706
hg18706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8956n54
Supporting Variantsnssv991232, nssv991231
Samples
Known GenesHTRA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593629
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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