A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511749



Internal ID15504488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243619266..243620623hg38UCSC Ensembl
Outerchr1:243782568..243783925hg19UCSC Ensembl
Outerchr1:241849191..241850548hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381358
hg191358
hg181358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626395
Samples1
Known GenesAKT3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511749
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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