A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv797n54



Internal ID22768692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210130974..210165052hg38UCSC Ensembl
chr1:210304319..210338397hg19UCSC Ensembl
chr1:208370942..208405020hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3834079
hg1934079
hg1834079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549104, nsv549105
Samples1780862001_A
Known GenesSYT14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv797n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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