A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9862n54



Internal ID20143286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70995423..71086488hg38UCSC Ensembl
chr5:70291250..70382315hg19UCSC Ensembl
chr5:70327006..70418071hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3891066
hg1991066
hg1891066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598614, nsv598571, nsv598617, nsv598603, nsv598576, nsv598611, nsv598597, nsv598610, nsv598579, nsv598574, nsv598575, nsv598591
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)dgv9862n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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