A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572770



Internal ID16360179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58613827..58619934hg38UCSC Ensembl
Innerchr16:58647731..58653838hg19UCSC Ensembl
Innerchr16:57205232..57211339hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg386108
hg196108
hg186108
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5153n54
Supporting Variantsnssv858636, nssv858588, nssv858599, nssv858605, nssv858590, nssv858598, nssv858638, nssv858631, nssv858630, nssv858620, nssv858597, nssv858592, nssv858604, nssv858641, nssv858601, nssv858600, nssv858609, nssv858621, nssv858632, nssv858628, nssv858619, nssv858646, nssv858624, nssv858622, nssv858626, nssv858611, nssv858612, nssv858635, nssv858589, nssv858602, nssv858634, nssv858593, nssv858586, nssv858615, nssv858603, nssv858648, nssv858637, nssv858627, nssv858606, nssv858595, nssv858643, nssv858647, nssv858618, nssv858613, nssv858644, nssv858610, nssv858649, nssv858629, nssv858640, nssv858650, nssv858645, nssv858587, nssv858625, nssv858614, nssv858596, nssv858639, nssv858591, nssv858616, nssv858651, nssv858608, nssv858623, nssv858633, nssv858617, nssv858594, nssv858642, nssv858607
Samples
Known GenesCNOT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572770
Frequency
Sample Size17421
Observed Gain36
Observed Loss30
Observed Complex0
Frequencyn/a


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