A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527304



Internal ID15454597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45532267..45532444hg38UCSC Ensembl
Innerchr22:45928147..45928324hg19UCSC Ensembl
Innerchr22:44306811..44306988hg18UCSC Ensembl
Innerchr22:44248684..44248861hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38178
hg19178
hg18178
hg17178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703723
Samples
Known GenesFBLN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527304
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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