A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047008



Internal ID18789539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46526513..46631445hg38UCSC Ensembl
Innerchr10:46918172..47047587hg19UCSC Ensembl
Innerchr10:46338178..46467593hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38104933
hg19129416
hg18129416
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv749n100
Supporting Variantsnssv3707864, nssv3507744, nssv3517900, nssv3514430, nssv3707877, nssv3507959, nssv3506593, nssv3707868, nssv3509394, nssv3707865, nssv3522001, nssv3707869, nssv3503271, nssv3520970, nssv3506358, nssv3505085, nssv3506468, nssv3707866, nssv3507513, nssv3517498, nssv3707867, nssv3510826, nssv3518607, nssv3517982, nssv3504230, nssv3503453, nssv3517580, nssv3520447, nssv3707878, nssv3503188, nssv3511484, nssv3707875, nssv3707876, nssv3707873, nssv3516067, nssv3504733, nssv3505306, nssv3519600, nssv3518174, nssv3707863, nssv3516980, nssv3506956, nssv3506237, nssv3512682, nssv3507389, nssv3505886, nssv3511325, nssv3503281, nssv3503676, nssv3522019, nssv3520360, nssv3514787, nssv3507117, nssv3505412, nssv3503098, nssv3514560, nssv3512053, nssv3707871, nssv3512558, nssv3519119, nssv3512017, nssv3516099, nssv3502791, nssv3517862, nssv3514284, nssv3507807, nssv3707874, nssv3518437, nssv3512424, nssv3513970, nssv3505164, nssv3515136, nssv3515580, nssv3707870, nssv3514069, nssv3707872, nssv3515756
Samples
Known GenesFAM35BP, GPRIN2, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047008
Frequency
Sample Size29084
Observed Gain63
Observed Loss14
Observed Complex0
Frequencyn/a


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