A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556246



Internal ID15996969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106915702..106918766hg38UCSC Ensembl
Innerchr11:106786428..106789492hg19UCSC Ensembl
Innerchr11:106291638..106294702hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383065
hg193065
hg183065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2158n54
Supporting Variantsnssv783609, nssv783551, nssv783511, nssv783604, nssv783578, nssv783607, nssv783524, nssv783554, nssv783478, nssv783580, nssv783497, nssv783507, nssv783610, nssv783480, nssv783535, nssv783498, nssv783492, nssv783591, nssv783586, nssv783563, nssv783546, nssv783537, nssv783462, nssv783555, nssv783523, nssv783558, nssv783485, nssv783606, nssv783512, nssv783583, nssv783590, nssv783484, nssv783525, nssv783467, nssv783553, nssv783500, nssv783592, nssv783473, nssv783545, nssv783600, nssv783601, nssv783562, nssv783483, nssv783509, nssv783503, nssv783517, nssv783528, nssv783469, nssv783520, nssv783573, nssv783556, nssv783540, nssv783481, nssv783464, nssv783529, nssv783495, nssv783559, nssv783527, nssv783470, nssv783557, nssv783516, nssv783504, nssv783585, nssv783543, nssv783549, nssv783593, nssv783599, nssv783518, nssv783534, nssv783493, nssv783539, nssv783602, nssv783526, nssv783490, nssv783508, nssv783499, nssv783475, nssv783566, nssv783482, nssv783544, nssv783501, nssv783574, nssv783587, nssv783530, nssv783465, nssv783572, nssv783472, nssv783468, nssv783611, nssv783564, nssv783479, nssv783522, nssv783536, nssv783502, nssv783569, nssv783547, nssv783594, nssv783463, nssv783589, nssv783474, nssv783603, nssv783608, nssv783567, nssv783579, nssv783496, nssv783532, nssv783598, nssv783491, nssv783577, nssv783548, nssv783505, nssv783561, nssv783597, nssv783531, nssv783550, nssv783533, nssv783605, nssv783582, nssv783581, nssv783513, nssv783541, nssv783486, nssv783494, nssv783542, nssv783506, nssv783576, nssv783565, nssv783488, nssv783595, nssv783584, nssv783519, nssv783466, nssv783560, nssv783596, nssv783571, nssv783489, nssv783471, nssv783515, nssv783538, nssv783570, nssv783514, nssv783510, nssv783477, nssv783476, nssv783588, nssv783575, nssv783521, nssv783568, nssv783552, nssv783487
Samples
Known GenesGUCY1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556246
Frequency
Sample Size17421
Observed Gain0
Observed Loss150
Observed Complex0
Frequencyn/a


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