A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625173



Internal ID15502023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14621092..14623548hg38UCSC Ensembl
Outerchr19:14731904..14734360hg19UCSC Ensembl
Outerchr19:14592904..14595360hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382457
hg192457
hg182457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512565
Supporting Variants
Samples1
Known GenesEMR3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625173
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