A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560572



Internal ID16347981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540458..124541865hg38UCSC Ensembl
Innerchr12:125025004..125026411hg19UCSC Ensembl
Innerchr12:123590957..123592364hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381408
hg191408
hg181408
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2942n54
Supporting Variantsnssv804064, nssv804069, nssv804101, nssv804053, nssv804058, nssv804082, nssv804068, nssv804043, nssv804074, nssv804094, nssv804051, nssv804065, nssv804088, nssv804060, nssv804095, nssv804104, nssv804049, nssv804061, nssv804055, nssv804097, nssv804076, nssv804062, nssv804046, nssv804084, nssv804059, nssv804054, nssv804044, nssv804093, nssv804079, nssv804086, nssv804042, nssv804039, nssv804070, nssv804091, nssv804040, nssv804085, nssv804096, nssv804083, nssv804087, nssv804048, nssv804099, nssv804078, nssv804100, nssv804066, nssv804063, nssv804092, nssv804056, nssv804050, nssv804071, nssv804081, nssv804075, nssv804072, nssv804089, nssv804098, nssv804077, nssv804103, nssv804047, nssv804057, nssv804045, nssv804090, nssv804080, nssv804041, nssv804073, nssv804102, nssv804067, nssv804052
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560572
Frequency
Sample Size17421
Observed Gain55
Observed Loss11
Observed Complex0
Frequencyn/a


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