A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041178



Internal ID19130397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..22300068hg38UCSC Ensembl
Innerchr15:20440526..22588019hg19UCSC Ensembl
Innerchr15:18700540..20089383hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382064796
hg192147494
hg181388844
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2191n100
Supporting Variantsnssv3539494, nssv3539503, nssv3539519, nssv3539501, nssv3539493, nssv3539507, nssv3539484, nssv3539513, nssv3539488, nssv3539510, nssv3539492, nssv3713586, nssv3539490, nssv3713590, nssv3539498, nssv3539491, nssv3539496, nssv3539497, nssv3539506, nssv3539514, nssv3713594, nssv3539511, nssv3713591, nssv3539512, nssv3539495, nssv3713596, nssv3713595, nssv3713592, nssv3713597, nssv3713589, nssv3539489, nssv3539517, nssv3539504, nssv3713582, nssv3539509, nssv3539486, nssv3713593, nssv3539508, nssv3713585, nssv3713598, nssv3539487, nssv3539518, nssv3539505, nssv3713587, nssv3539485, nssv3539515, nssv3713599, nssv3539500, nssv3539499, nssv3539516, nssv3713588, nssv3713583, nssv3539502, nssv3713584
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041178
Frequency
Sample Size11257
Observed Gain38
Observed Loss16
Observed Complex0
Frequencyn/a


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