A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517295



Internal ID15097902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189113137..189970548hg38UCSC Ensembl
Innerchr4:190034291..190891703hg19UCSC Ensembl
Innerchr4:190271285..191128697hg18UCSC Ensembl
Innerchr4:190409440..191266852hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38857412
hg19857413
hg18857413
hg17857413
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702258, nssv701324, nssv682745, nssv682684, nssv696815, nssv700086, nssv688891, nssv669323, nssv685382, nssv696187, nssv680003, nssv694377, nssv702062, nssv691739, nssv670786, nssv674417, nssv654231, nssv682812, nssv662363, nssv703739, nssv692174, nssv660215, nssv654294
Samples
Known GenesFRG1, LOC283788
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517295
Frequency
Sample Size2026
Observed Gain16
Observed Loss7
Observed Complex0
Frequencyn/a


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