A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047380



Internal ID18789911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20893865..20952929hg38UCSC Ensembl
Innerchr14:21362024..21421088hg19UCSC Ensembl
Innerchr14:20431864..20490928hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3859065
hg1959065
hg1859065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1802n100
Supporting Variantsnssv3532079, nssv3532031, nssv3532001, nssv3532013, nssv3532085, nssv3532076, nssv3532068, nssv3532092, nssv3532049, nssv3532002, nssv3532024, nssv3532074, nssv3532030, nssv3532065, nssv3531996, nssv3532003, nssv3532066, nssv3532007, nssv3531992, nssv3532008, nssv3532081, nssv3532047, nssv3532004, nssv3532032, nssv3532091, nssv3532088, nssv3532045, nssv3532044, nssv3532041, nssv3532005, nssv3532069, nssv3532063, nssv3532077, nssv3532011, nssv3531993, nssv3532087, nssv3532028, nssv3532017, nssv3532016, nssv3532057, nssv3532040, nssv3531989, nssv3532037, nssv3532078, nssv3532039, nssv3532071, nssv3532027, nssv3531990, nssv3532082, nssv3532052, nssv3532038, nssv3532020, nssv3531999, nssv3532090, nssv3532050, nssv3532048, nssv3532029, nssv3532080, nssv3532054, nssv3532083, nssv3532012, nssv3532018, nssv3532009, nssv3532033, nssv3531994, nssv3532015, nssv3532062, nssv3531987, nssv3532073, nssv3531986, nssv3532084, nssv3532051, nssv3532056, nssv3532046, nssv3532093, nssv3532034, nssv3532036, nssv3532060, nssv3531998, nssv3532061, nssv3532043, nssv3532006, nssv3532086, nssv3532072, nssv3532053, nssv3532023, nssv3532089, nssv3532075, nssv3532019, nssv3532064, nssv3531988, nssv3532025, nssv3531985, nssv3532022, nssv3532067, nssv3531997, nssv3532058, nssv3532042, nssv3532021, nssv3531991, nssv3532010, nssv3532059, nssv3532026, nssv3532070, nssv3532014, nssv3531984, nssv3532055, nssv3532035, nssv3532000, nssv3531995
Samples
Known GenesECRP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047380
Frequency
Sample Size29084
Observed Gain0
Observed Loss110
Observed Complex0
Frequencyn/a


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