A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv654n54



Internal ID20134078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179498779..179500358hg38UCSC Ensembl
chr1:179467914..179469493hg19UCSC Ensembl
chr1:177734537..177736116hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381580
hg191580
hg181580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548334, nsv548333, nsv548332
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv654n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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