A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015423



Internal ID18757957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7894514..7930428hg38UCSC Ensembl
Innerchr8:7752036..7787950hg19UCSC Ensembl
Innerchr8:7789446..7825360hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3835915
hg1935915
hg1835915
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6974n100
Supporting Variantsnssv3753769, nssv3681041, nssv3753762, nssv3681078, nssv3753758, nssv3681040, nssv3753766, nssv3753728, nssv3681054, nssv3753767, nssv3681083, nssv3753727, nssv3681045, nssv3753760, nssv3753738, nssv3753757, nssv3753751, nssv3681033, nssv3753768, nssv3681079, nssv3753733, nssv3681059, nssv3681056, nssv3681052, nssv3753763, nssv3681081, nssv3753743, nssv3753752, nssv3753755, nssv3753729, nssv3753739, nssv3681064, nssv3753745, nssv3681070, nssv3681043, nssv3681038, nssv3681031, nssv3681077, nssv3753756, nssv3753736, nssv3753726, nssv3753749, nssv3681065, nssv3753734, nssv3681060, nssv3753759, nssv3753732, nssv3681030, nssv3753740, nssv3681050, nssv3681037, nssv3753741, nssv3681074, nssv3681032, nssv3753753, nssv3753748, nssv3681082, nssv3681046, nssv3681035, nssv3681067, nssv3681071, nssv3753737, nssv3753746, nssv3681066, nssv3753730, nssv3681044, nssv3753731, nssv3753744, nssv3681051, nssv3681048, nssv3681076, nssv3681068, nssv3753754, nssv3681036, nssv3681062, nssv3753750, nssv3681042, nssv3681061, nssv3681047, nssv3681049, nssv3753747, nssv3681080, nssv3681053, nssv3681034, nssv3681039, nssv3681063, nssv3753764, nssv3753761, nssv3681075, nssv3753735, nssv3681057, nssv3753742, nssv3681072, nssv3681055, nssv3681058, nssv3753765, nssv3681073, nssv3681069
Samples
Known GenesDEFB4A, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015423
Frequency
Sample Size29084
Observed Gain90
Observed Loss8
Observed Complex0
Frequencyn/a


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