A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581320



Internal ID16022043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33540244..33541741hg38UCSC Ensembl
Innerchr2:33765311..33766808hg19UCSC Ensembl
Innerchr2:33618815..33620312hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381498
hg191498
hg181498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6755n54
Supporting Variantsnssv904983, nssv904928, nssv904967, nssv904946, nssv904940, nssv904921, nssv904927, nssv904951, nssv904943, nssv904968, nssv904972, nssv904952, nssv904937, nssv904925, nssv904979, nssv904960, nssv904958, nssv904945, nssv904971, nssv904936, nssv904918, nssv904938, nssv904926, nssv904930, nssv904982, nssv904956, nssv904990, nssv904931, nssv904935, nssv904988, nssv904985, nssv904977, nssv904976, nssv904924, nssv904970, nssv904973, nssv904933, nssv904939, nssv904978, nssv904953, nssv904947, nssv904966, nssv904980, nssv904981, nssv904959, nssv904965, nssv904923, nssv904961, nssv904941, nssv904984, nssv904919, nssv904920, nssv904954, nssv904934, nssv904957, nssv904949, nssv904964, nssv904969, nssv904922, nssv904950, nssv904917, nssv904989, nssv904963, nssv904942, nssv904975, nssv904932, nssv904916, nssv904986, nssv904948, nssv904955, nssv904974, nssv904929, nssv904987, nssv904962, nssv904944
Samples
Known GenesRASGRP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581320
Frequency
Sample Size17421
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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