A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9979n54



Internal ID22777874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:104311313..104389369hg38UCSC Ensembl
chr5:103647014..103725070hg19UCSC Ensembl
chr5:103674913..103752969hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3878057
hg1978057
hg1878057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599207, nsv599208
SamplesNINDS_222
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9979n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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