A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9861n54



Internal ID20143285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70969293..71080664hg38UCSC Ensembl
chr5:70265120..70376491hg19UCSC Ensembl
chr5:70300876..70412247hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38111372
hg19111372
hg18111372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598567, nsv598568, nsv598570
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9861n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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