A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559979



Internal ID16000702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99895704..99897919hg38UCSC Ensembl
Innerchr12:100289482..100291697hg19UCSC Ensembl
Innerchr12:98813613..98815828hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382216
hg192216
hg182216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2828n54
Supporting Variantsnssv801614, nssv801621, nssv801570, nssv801554, nssv801571, nssv801623, nssv801619, nssv801611, nssv801557, nssv801586, nssv801589, nssv801567, nssv801624, nssv801603, nssv801597, nssv801537, nssv801527, nssv801625, nssv801564, nssv801613, nssv801615, nssv801599, nssv801525, nssv801563, nssv801540, nssv801582, nssv801552, nssv801584, nssv801612, nssv801581, nssv801600, nssv801595, nssv801530, nssv801528, nssv801539, nssv801569, nssv801560, nssv801543, nssv801556, nssv801583, nssv801555, nssv801618, nssv801616, nssv801553, nssv801579, nssv801622, nssv801591, nssv801594, nssv801531, nssv801601, nssv801575, nssv801608, nssv801551, nssv801544, nssv801610, nssv801602, nssv801532, nssv801538, nssv801533, nssv801568, nssv801545, nssv801548, nssv801580, nssv801536, nssv801576, nssv801572, nssv801529, nssv801547, nssv801587, nssv801598, nssv801559, nssv801526, nssv801593, nssv801535, nssv801549, nssv801550, nssv801577, nssv801574, nssv801617, nssv801620, nssv801573, nssv801604, nssv801605, nssv801592, nssv801606, nssv801562, nssv801558, nssv801561, nssv801607, nssv801596, nssv801590, nssv801626, nssv801585, nssv801541, nssv801578, nssv801588, nssv801566, nssv801542, nssv801534, nssv801609, nssv801565, nssv801546
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559979
Frequency
Sample Size17421
Observed Gain0
Observed Loss102
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer