A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626373



Internal ID15503220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212297570..212299618hg38UCSC Ensembl
Outerchr1:212470912..212472960hg19UCSC Ensembl
Outerchr1:210537535..210539583hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382049
hg192049
hg182049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511729
Supporting Variants
Samples1
Known GenesPPP2R5A
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626373
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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