A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv799n54



Internal ID22768694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210549210..210550669hg38UCSC Ensembl
chr1:210722554..210724013hg19UCSC Ensembl
chr1:208789177..208790636hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381460
hg191460
hg181460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549109, nsv549110, nsv549108, nsv549118, nsv549111
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv799n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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