A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4424n100



Internal ID20156040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30710632..30880903hg38UCSC Ensembl
chr21:32082950..32253222hg19UCSC Ensembl
chr21:31004821..31175093hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38170272
hg19170273
hg18170273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059326, nsv1059258
Samples
Known GenesKRTAP11-1, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP7-1, KRTAP8-1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4424n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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