A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517346



Internal ID15444639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:142638295..142640943hg38UCSC Ensembl
Innerchr5:142017860..142020508hg19UCSC Ensembl
Innerchr5:141998044..142000692hg18UCSC Ensembl
Innerchr5:141998044..142000692hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382649
hg192649
hg182649
hg172649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687270, nssv699017, nssv656413, nssv677158, nssv651955, nssv680096, nssv687875, nssv657085, nssv651789, nssv653194, nssv678082, nssv667219, nssv661916, nssv661080, nssv660798, nssv692718, nssv685308
Samples
Known GenesFGF1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517346
Frequency
Sample Size2026
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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