A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520559



Internal ID15447852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130133334..130390535hg38UCSC Ensembl
Innerchr2:130890907..131148108hg19UCSC Ensembl
Innerchr2:130607377..130864578hg18UCSC Ensembl
Innerchr2:130607137..130864338hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38257202
hg19257202
hg18257202
hg17257202
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675857, nssv687961, nssv672527, nssv694129
Samples
Known GenesCCDC115, CCDC74B, IMP4, MED15P9, MZT2B, PTPN18, SMPD4, TUBA3E
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520559
Frequency
Sample Size2026
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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