A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552699



Internal ID15993422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133452885..133563944hg38UCSC Ensembl
Innerchr10:135266389..135377448hg19UCSC Ensembl
Innerchr10:135116379..135227438hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38111060
hg19111060
hg18111060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1493n54
Supporting Variantsnssv762951, nssv1175055, nssv762937, nssv762958, nssv762952, nssv762966, nssv762964, nssv762953, nssv762935, nssv762942, nssv762940, nssv762946, nssv1175056, nssv762963, nssv1175057, nssv762943, nssv762939, nssv762933, nssv762957, nssv762945, nssv762932, nssv762934, nssv762931, nssv762938, nssv762949, nssv762967, nssv762955, nssv762947, nssv762948, nssv762965, nssv762936, nssv762944, nssv762960, nssv762956, nssv762950, nssv1175058, nssv762962, nssv762954, nssv762961, nssv762941, nssv1175054, nssv762959
SamplesNINDS_155, NINDS_49, NINDS_255, 1780862175_A, NINDS_34
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552699
Frequency
Sample Size17421
Observed Gain42
Observed Loss0
Observed Complex0
Frequencyn/a


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