A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559145



Internal ID16346554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:60709781..60922010hg38UCSC Ensembl
Innerchr12:61103562..61315791hg19UCSC Ensembl
Innerchr12:59389829..59602058hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38212230
hg19212230
hg18212230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2674n54
Supporting Variantsnssv797461
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559145
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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