A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv400n54



Internal ID20133824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103579934..103644686hg38UCSC Ensembl
chr1:104122556..104187308hg19UCSC Ensembl
chr1:103924079..103988831hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3864753
hg1964753
hg1864753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546981, nsv546985, nsv546986
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv400n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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