A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512795



Internal ID15505531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10365810..10365897hg38UCSC Ensembl
Outerchr3:10407494..10407581hg19UCSC Ensembl
Outerchr3:10382494..10382581hg18UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38960
hg19960
hg18960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625428
Samples1
Known GenesATP2B2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512795
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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