A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065482



Internal ID18808013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21212930..21490993hg38UCSC Ensembl
Innerchr22:21567219..21845282hg19UCSC Ensembl
Innerchr22:19897219..20175282hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38278064
hg19278064
hg18278064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4487n100
Supporting Variantsnssv3731866, nssv3587425, nssv3587502, nssv3587453, nssv3731880, nssv3587444, nssv3587436, nssv3587496, nssv3587419, nssv3731882, nssv3587461, nssv3587493, nssv3587442, nssv3731878, nssv3587437, nssv3587468, nssv3587457, nssv3587490, nssv3587473, nssv3587427, nssv3587443, nssv3587454, nssv3587417, nssv3587421, nssv3587494, nssv3587448, nssv3587458, nssv3587435, nssv3587480, nssv3587501, nssv3587484, nssv3587433, nssv3587447, nssv3587430, nssv3587487, nssv3587446, nssv3587420, nssv3731872, nssv3587450, nssv3731881, nssv3587460, nssv3587474, nssv3731873, nssv3587459, nssv3731875, nssv3587495, nssv3587471, nssv3587418, nssv3587438, nssv3731876, nssv3731870, nssv3587467, nssv3731874, nssv3587492, nssv3587462, nssv3587500, nssv3587483, nssv3587449, nssv3587491, nssv3587463, nssv3587424, nssv3587486, nssv3587476, nssv3587477, nssv3587499, nssv3587432, nssv3587479, nssv3587482, nssv3587455, nssv3587456, nssv3587431, nssv3587489, nssv3587469, nssv3587452, nssv3587464, nssv3587497, nssv3587488, nssv3587470, nssv3587416, nssv3731871, nssv3731869, nssv3731867, nssv3731868, nssv3587422, nssv3587475, nssv3587498, nssv3587428, nssv3587451, nssv3587440, nssv3587478, nssv3587472, nssv3587465, nssv3587429, nssv3587441, nssv3587434, nssv3587485, nssv3587426, nssv3587445, nssv3731879, nssv3587481, nssv3587466, nssv3587439, nssv3731877, nssv3587423
Samples
Known GenesHIC2, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065482
Frequency
Sample Size29084
Observed Gain104
Observed Loss0
Observed Complex0
Frequencyn/a


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