A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594060



Internal ID16381469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:42695536..42707137hg38UCSC Ensembl
Innerchr4:42697553..42709154hg19UCSC Ensembl
Innerchr4:42392310..42403911hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3811602
hg1911602
hg1811602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9024n54
Supporting Variantsnssv996688, nssv996682, nssv996692, nssv996687, nssv996689, nssv996683, nssv996690, nssv996684, nssv996685, nssv996691, nssv996686
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594060
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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