A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv808n54



Internal ID22768703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212828746..212834885hg38UCSC Ensembl
chr1:213002088..213008227hg19UCSC Ensembl
chr1:211068711..211074850hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg386140
hg196140
hg186140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549159, nsv549153, nsv549151, nsv549158, nsv549152
Samples
Known GenesC1orf227
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv808n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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