A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005648



Internal ID18748179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..66074hg38UCSC Ensembl
Innerchr4:12269..65966hg19UCSC Ensembl
Innerchr4:2269..55966hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3853806
hg1953698
hg1853698
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5055n100
Supporting Variantsnssv3619485, nssv3619470, nssv3737959, nssv3619447, nssv3619443, nssv3619502, nssv3619529, nssv3619515, nssv3619476, nssv3737958, nssv3619484, nssv3619453, nssv3737968, nssv3619507, nssv3619521, nssv3619489, nssv3619488, nssv3619530, nssv3619510, nssv3619525, nssv3619501, nssv3619497, nssv3619508, nssv3619495, nssv3619463, nssv3619477, nssv3619509, nssv3619454, nssv3737956, nssv3737964, nssv3619528, nssv3619459, nssv3619513, nssv3619498, nssv3737965, nssv3619482, nssv3619458, nssv3619448, nssv3619483, nssv3619480, nssv3619527, nssv3619445, nssv3619451, nssv3619492, nssv3737966, nssv3619503, nssv3619500, nssv3619462, nssv3619533, nssv3619514, nssv3619479, nssv3619472, nssv3619466, nssv3619520, nssv3619455, nssv3619441, nssv3619464, nssv3619517, nssv3619478, nssv3619465, nssv3619450, nssv3619504, nssv3619516, nssv3619467, nssv3619505, nssv3737961, nssv3619471, nssv3619461, nssv3737962, nssv3619511, nssv3619474, nssv3737967, nssv3619523, nssv3619440, nssv3619519, nssv3737960, nssv3619475, nssv3619490, nssv3619444, nssv3619491, nssv3619522, nssv3619534, nssv3619526, nssv3619499, nssv3619496, nssv3619449, nssv3737957, nssv3619473, nssv3619493, nssv3619532, nssv3619481, nssv3619531, nssv3619457, nssv3619456, nssv3737963, nssv3619506, nssv3619468, nssv3619486, nssv3619512, nssv3619446, nssv3619524, nssv3619460, nssv3619535, nssv3619452, nssv3737955, nssv3619494, nssv3619469, nssv3619442, nssv3619518, nssv3619487
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005648
Frequency
Sample Size29084
Observed Gain80
Observed Loss30
Observed Complex0
Frequencyn/a


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