A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626526



Internal ID15850059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42796755..42799502hg38UCSC Ensembl
Outerchr3:42838247..42840994hg19UCSC Ensembl
Outerchr3:42813251..42815998hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382748
hg192748
hg182748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv513043
Supporting Variants
Samples1
Known GenesHIGD1A
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626526
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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