A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv699n54



Internal ID22768594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190695159..190804699hg38UCSC Ensembl
chr1:190664289..190773829hg19UCSC Ensembl
chr1:188930912..189040452hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38109541
hg19109541
hg18109541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548571, nsv548568, nsv548572
Samples1780862202_A
Known GenesLOC440704
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv699n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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