A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517509



Internal ID15444802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6429821..6433964hg38UCSC Ensembl
Innerchr8:6287342..6291485hg19UCSC Ensembl
Innerchr8:6274750..6278893hg18UCSC Ensembl
Innerchr8:6274750..6278893hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384144
hg194144
hg184144
hg174144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv444n21
Supporting Variantsnssv677974, nssv686939, nssv673546, nssv670457, nssv686393, nssv680866, nssv683767, nssv661481, nssv677908, nssv688758, nssv655641, nssv662581, nssv655225, nssv676534, nssv671204, nssv687554, nssv672797, nssv670813, nssv691593, nssv660262, nssv684484, nssv666739, nssv676205, nssv680281, nssv652229, nssv687141, nssv692199, nssv687432
Samples
Known GenesMCPH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517509
Frequency
Sample Size2026
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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