A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557929



Internal ID15998652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691593..29693318hg38UCSC Ensembl
Innerchr12:29844526..29846251hg19UCSC Ensembl
Innerchr12:29735793..29737518hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381726
hg191726
hg181726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2446n54
Supporting Variantsnssv790655, nssv790615, nssv790667, nssv790601, nssv790605, nssv790689, nssv790609, nssv790681, nssv790592, nssv790703, nssv790639, nssv790585, nssv790608, nssv790596, nssv790704, nssv790599, nssv790659, nssv790692, nssv790593, nssv790626, nssv790602, nssv790588, nssv790665, nssv790661, nssv790635, nssv790674, nssv790594, nssv790678, nssv790657, nssv790653, nssv790671, nssv790697, nssv790595, nssv790630, nssv790668, nssv790666, nssv790586, nssv790705, nssv790648, nssv790710, nssv790629, nssv790647, nssv790696, nssv790610, nssv790687, nssv790663, nssv790604, nssv790645, nssv790597, nssv790673, nssv790606, nssv790598, nssv790693, nssv790706, nssv790701, nssv790707, nssv790685, nssv790650, nssv790624, nssv790670, nssv790679, nssv790690, nssv790649, nssv790684, nssv790660, nssv790619, nssv790652, nssv790709, nssv790686, nssv790636, nssv790628, nssv790698, nssv790640, nssv790623, nssv790688, nssv790631, nssv790708, nssv790651, nssv790644, nssv790675, nssv790612, nssv790611, nssv790712, nssv790642, nssv790613, nssv790589, nssv790643, nssv790672, nssv790591, nssv790700, nssv790702, nssv790669, nssv790632, nssv790699, nssv790691, nssv790622, nssv790656, nssv790617, nssv790654, nssv790677, nssv790621, nssv790587, nssv790662, nssv790695, nssv790664, nssv790637, nssv790614, nssv790620, nssv790638, nssv790680, nssv790658, nssv790590, nssv790625, nssv790618, nssv790711, nssv790676, nssv790634, nssv790603, nssv790694, nssv790600, nssv790683, nssv790641, nssv790646, nssv790607, nssv790627, nssv790616, nssv790633, nssv790682
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557929
Frequency
Sample Size17421
Observed Gain0
Observed Loss128
Observed Complex0
Frequencyn/a


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