A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594948



Internal ID16035671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:101039102..101039683hg38UCSC Ensembl
Innerchr4:101960259..101960840hg19UCSC Ensembl
Innerchr4:102179282..102179863hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38582
hg19582
hg18582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9180n54
Supporting Variantsnssv1003495, nssv1003546, nssv1003508, nssv1003534, nssv1003523, nssv1003520, nssv1003517, nssv1003557, nssv1003540, nssv1003466, nssv1003460, nssv1003487, nssv1003473, nssv1003476, nssv1003474, nssv1003462, nssv1003554, nssv1003482, nssv1003550, nssv1003519, nssv1003560, nssv1003490, nssv1003509, nssv1003496, nssv1003571, nssv1003472, nssv1003563, nssv1003458, nssv1003570, nssv1003562, nssv1003544, nssv1003481, nssv1003486, nssv1003469, nssv1003480, nssv1003488, nssv1003501, nssv1003465, nssv1003553, nssv1003485, nssv1003551, nssv1003532, nssv1003494, nssv1003500, nssv1003522, nssv1003539, nssv1003528, nssv1003574, nssv1003511, nssv1003545, nssv1003559, nssv1003510, nssv1003484, nssv1003530, nssv1003575, nssv1003536, nssv1003567, nssv1003516, nssv1003492, nssv1003507, nssv1003525, nssv1003569, nssv1003565, nssv1003564, nssv1003464, nssv1003506, nssv1003459, nssv1003457, nssv1003543, nssv1003503, nssv1003463, nssv1003566, nssv1003542, nssv1003505, nssv1003549, nssv1003572, nssv1003479, nssv1003477, nssv1003475, nssv1003541, nssv1003498, nssv1003552, nssv1003521, nssv1003515, nssv1003489, nssv1003561, nssv1003576, nssv1003470, nssv1003471, nssv1003483, nssv1003502, nssv1003529, nssv1003568, nssv1003514, nssv1003491, nssv1003468, nssv1003512, nssv1003531, nssv1003533, nssv1003548, nssv1003555, nssv1003513, nssv1003493, nssv1003499, nssv1003526, nssv1003518, nssv1003558, nssv1003467, nssv1003547, nssv1003497, nssv1003573, nssv1003461, nssv1003537, nssv1003535, nssv1003577, nssv1003478, nssv1003527, nssv1003556, nssv1003524, nssv1003538, nssv1003504
Samples
Known GenesPPP3CA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594948
Frequency
Sample Size17421
Observed Gain0
Observed Loss121
Observed Complex0
Frequencyn/a


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