A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005609



Internal ID19094826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68524562..68674295hg38UCSC Ensembl
Innerchr4:69390280..69540013hg19UCSC Ensembl
Innerchr4:69072875..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38149734
hg19149734
hg18149734
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5264n100
Supporting Variantsnssv3629985, nssv3743857, nssv3629945, nssv3629965, nssv3629984, nssv3629992, nssv3630002, nssv3629962, nssv3629987, nssv3630003, nssv3743855, nssv3629971, nssv3630004, nssv3629942, nssv3629973, nssv3630009, nssv3743853, nssv3630008, nssv3629959, nssv3629995, nssv3629948, nssv3629972, nssv3630016, nssv3630007, nssv3629980, nssv3629955, nssv3630017, nssv3629993, nssv3629963, nssv3629943, nssv3629961, nssv3629951, nssv3629947, nssv3743856, nssv3630011, nssv3629976, nssv3629956, nssv3743859, nssv3629990, nssv3629969, nssv3743858, nssv3743854, nssv3743860, nssv3629991, nssv3629964, nssv3629977, nssv3629994, nssv3745727, nssv3629989, nssv3629960, nssv3629949, nssv3629975, nssv3743861, nssv3629944, nssv3629988, nssv3630006, nssv3629953, nssv3629968, nssv3629957, nssv3629954, nssv3629978, nssv3629999, nssv3630014, nssv3629983, nssv3629940, nssv3629966, nssv3630001, nssv3630000, nssv3630013, nssv3629979, nssv3629950, nssv3629974, nssv3629996, nssv3629967, nssv3629986, nssv3630015, nssv3629952, nssv3630012, nssv3629958, nssv3630010, nssv3629941, nssv3629998, nssv3629981, nssv3743862, nssv3629982, nssv3629946, nssv3629997, nssv3630005, nssv3629970
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005609
Frequency
Sample Size11257
Observed Gain88
Observed Loss1
Observed Complex0
Frequencyn/a


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