A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024322



Internal ID18766855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7952372hg38UCSC Ensembl
Innerchr8:7214599..7809894hg19UCSC Ensembl
Innerchr8:7202009..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38595296
hg19595296
hg18645296
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6910n100
Supporting Variantsnssv3678708, nssv3678716, nssv3678718, nssv3754947, nssv3678729, nssv3754963, nssv3678704, nssv3754959, nssv3678717, nssv3678742, nssv3754950, nssv3678721, nssv3678712, nssv3678747, nssv3754958, nssv3754953, nssv3678743, nssv3678744, nssv3678738, nssv3678737, nssv3754957, nssv3678709, nssv3678706, nssv3678748, nssv3678705, nssv3678739, nssv3678740, nssv3678731, nssv3754952, nssv3678736, nssv3754955, nssv3678730, nssv3678746, nssv3678711, nssv3678710, nssv3678707, nssv3678732, nssv3754962, nssv3754949, nssv3678733, nssv3678719, nssv3754956, nssv3754954, nssv3754951, nssv3678724, nssv3678727, nssv3754948, nssv3754961, nssv3678734, nssv3754960, nssv3678741, nssv3678722, nssv3678745, nssv3678725, nssv3678735, nssv3678714, nssv3754946, nssv3678713, nssv3678728, nssv3678723, nssv3678726, nssv3678715, nssv3678720
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024322
Frequency
Sample Size29084
Observed Gain52
Observed Loss11
Observed Complex0
Frequencyn/a


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