A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597048



Internal ID16384457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8703036..8748515hg38UCSC Ensembl
Innerchr5:8703148..8748627hg19UCSC Ensembl
Innerchr5:8756148..8801627hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3845480
hg1945480
hg1845480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9569n54
Supporting Variantsnssv1024064, nssv1024052, nssv1024085, nssv1024075, nssv1024062, nssv1024083, nssv1024076, nssv1024045, nssv1024073, nssv1024072, nssv1024080, nssv1024056, nssv1024048, nssv1024041, nssv1024040, nssv1024055, nssv1024044, nssv1024038, nssv1024084, nssv1024053, nssv1024063, nssv1024047, nssv1024086, nssv1024054, nssv1024061, nssv1024070, nssv1024066, nssv1024059, nssv1024082, nssv1024035, nssv1024068, nssv1024067, nssv1024034, nssv1024042, nssv1024043, nssv1024078, nssv1024049, nssv1024051, nssv1024036, nssv1024074, nssv1024069, nssv1024081, nssv1024077, nssv1024065, nssv1024050, nssv1024039, nssv1024058, nssv1024071, nssv1024079, nssv1024046, nssv1024057, nssv1024037, nssv1024060
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597048
Frequency
Sample Size17421
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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