A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526047



Internal ID8420322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99684466..99980490hg38UCSC Ensembl
Innerchr1:100150022..100446046hg19UCSC Ensembl
Innerchr1:99922610..100218634hg18UCSC Ensembl
Innerchr1:99862043..100158067hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38296025
hg19296025
hg18296025
hg17296025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702283
Samples
Known GenesAGL, FRRS1, MIR548AA1, MIR548D1, PALMD, SLC35A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526047
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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