A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527541



Internal ID15108148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:157840017..157848605hg38UCSC Ensembl
Innerchr2:158696529..158705117hg19UCSC Ensembl
Innerchr2:158404775..158413363hg18UCSC Ensembl
Innerchr2:158522037..158530625hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg388589
hg198589
hg188589
hg178589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704002
Samples
Known GenesACVR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527541
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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