A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9812n54



Internal ID22777707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61331130..61333772hg38UCSC Ensembl
chr5:60626957..60629599hg19UCSC Ensembl
chr5:60662714..60665356hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg382643
hg192643
hg182643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598317, nsv598316
Samples
Known GenesZSWIM6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9812n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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