A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558934



Internal ID15999657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52690389..52693665hg38UCSC Ensembl
Innerchr12:53084173..53087449hg19UCSC Ensembl
Innerchr12:51370440..51373716hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383277
hg193277
hg183277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2634n54
Supporting Variantsnssv796005
Samples
Known GenesKRT77
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558934
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