A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10641n54



Internal ID20144065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44224183..44314579hg38UCSC Ensembl
chr6:44191920..44282316hg19UCSC Ensembl
chr6:44299898..44390294hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3890397
hg1990397
hg1890397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv603004, nsv603005
Samples1780862300_A
Known GenesAARS2, HSP90AB1, MIR4647, NFKBIE, SLC29A1, SLC35B2, TCTE1, TMEM151B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10641n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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