A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8281



Internal ID15499507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7247191..8035497hg38UCSC Ensembl
Outerchr8:7104713..7893019hg19UCSC Ensembl
Outerchr8:7092123..7930429hg18UCSC Ensembl
Outerchr8:7092123..7930429hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38788307
hg19788307
hg18838307
hg17838307
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16042, nssv18061, nssv17458, nssv16867, nssv17609, nssv17518, nssv16965, nssv18957, nssv16316, nssv17911, nssv19183, nssv16072, nssv19403, nssv17316, nssv16774, nssv17488, nssv17769, nssv16995, nssv18211, nssv16592, nssv16457, nssv17941, nssv16987, nssv15709, nssv16624, nssv20640, nssv16580, nssv17055, nssv19904, nssv16714, nssv19063, nssv19077, nssv17549, nssv17639, nssv16654, nssv19463, nssv17376, nssv15829, nssv17858, nssv19994, nssv16705, nssv19964, nssv16517, nssv16825, nssv17368, nssv16795, nssv17103, nssv20520, nssv17178, nssv18151, nssv17148, nssv17579, nssv19153, nssv19017, nssv16966, nssv17851, nssv16610, nssv16682, nssv16652, nssv20580, nssv20670, nssv19251, nssv17669, nssv20024, nssv16957, nssv17133, nssv17346, nssv17971, nssv18987, nssv15965, nssv16594, nssv18732, nssv20730, nssv17398, nssv17163, nssv17286, nssv16286, nssv17679, nssv19123, nssv16735, nssv17208, nssv17238, nssv20700, nssv15371, nssv15859, nssv16927, nssv19047, nssv15739, nssv17047, nssv17881, nssv17709, nssv15995, nssv17137, nssv15880, nssv16194, nssv19311, nssv16025, nssv16132, nssv19137, nssv18001, nssv17107, nssv19281, nssv16684, nssv17017, nssv18181, nssv19934, nssv17193, nssv19493, nssv16562, nssv17338, nssv16622, nssv20610, nssv17118, nssv17223, nssv19221, nssv20550, nssv15799, nssv15341, nssv17699, nssv16897, nssv19874, nssv17649, nssv17519, nssv15889, nssv17025, nssv16577, nssv15910, nssv15311, nssv15935, nssv18031, nssv16487, nssv16547, nssv16712, nssv17619
SamplesNA12802, NA18975, NA19173, NA10839, NA10847, NA18972, NA18517, NA19144, NA18860, NA07029, NA10863, NA12155, NA18563, NA12740, NA07048, NA18537, NA18572, NA18502, NA12872, NA18504, NA18564, NA18942, NA19221, NA18552, NA19132, NA11830, NA19240, NA18853, NA19007, NA18980
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv8281
Frequency
Sample Size31
Observed Gain25
Observed Loss15
Observed Complex0
Frequencyn/a


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