A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv271n54



Internal ID22768166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51989496..51991487hg38UCSC Ensembl
chr1:52455168..52457159hg19UCSC Ensembl
chr1:52227756..52229747hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381992
hg191992
hg181992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546225, nsv546217, nsv546210, nsv546222, nsv546228
Samples
Known GenesRAB3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv271n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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