A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564884



Internal ID16005607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:61667038..61740839hg38UCSC Ensembl
Innerchr14:62133756..62207557hg19UCSC Ensembl
Innerchr14:61203509..61277310hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3873802
hg1973802
hg1873802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv828209
Samples
Known GenesHIF1A, HIF1A-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564884
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