A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9867n54



Internal ID20143291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71009869..71063128hg38UCSC Ensembl
chr5:70305696..70358955hg19UCSC Ensembl
chr5:70341452..70394711hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3853260
hg1953260
hg1853260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598602, nsv598590, nsv598589
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9867n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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