A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9870n54



Internal ID20143294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71010623..71042023hg38UCSC Ensembl
chr5:70306450..70337850hg19UCSC Ensembl
chr5:70342206..70373606hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3831401
hg1931401
hg1831401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598596, nsv598613
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)dgv9870n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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