A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6n54



Internal ID20133430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:917392..934930hg38UCSC Ensembl
chr1:852772..870310hg19UCSC Ensembl
chr1:842635..860173hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3817539
hg1917539
hg1817539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv544896, nsv544894
Samples
Known GenesLOC100130417, SAMD11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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