A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602245



Internal ID16389654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32491135..32515365hg38UCSC Ensembl
Innerchr6:32458912..32483142hg19UCSC Ensembl
Innerchr6:32566890..32591120hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3824231
hg1924231
hg1824231
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10498n54
Supporting Variantsnssv1054709, nssv1054710, nssv1054713, nssv1054706, nssv1054697, nssv1054690, nssv1054696, nssv1054712, nssv1054699, nssv1054705, nssv1054719, nssv1054714, nssv1054693, nssv1054704, nssv1054695, nssv1054698, nssv1054720, nssv1054701, nssv1054715, nssv1054694, nssv1054718, nssv1054687, nssv1054700, nssv1054689, nssv1054717, nssv1054688, nssv1054691, nssv1054692, nssv1054703, nssv1054716, nssv1054702, nssv1054711, nssv1054707, nssv1054708
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602245
Frequency
Sample Size17421
Observed Gain1
Observed Loss33
Observed Complex0
Frequencyn/a


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