A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv391n54



Internal ID22768286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103525452..103526545hg38UCSC Ensembl
chr1:104068074..104069167hg19UCSC Ensembl
chr1:103840662..103841755hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381094
hg191094
hg181094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546947, nsv546949, nsv546946, nsv546945, nsv546948
Samples
Known GenesLOC101928436, RNPC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv391n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer