A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558900



Internal ID16346309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52281314..52307183hg38UCSC Ensembl
Innerchr12:52675098..52700967hg19UCSC Ensembl
Innerchr12:50961365..50987234hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3825870
hg1925870
hg1825870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795966
Samples
Known GenesKRT81, KRT86
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558900
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