A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518705



Internal ID15099312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:10488725..10496742hg38UCSC Ensembl
Innerchr11:10510272..10518289hg19UCSC Ensembl
Innerchr11:10466848..10474865hg18UCSC Ensembl
Innerchr11:10466848..10474865hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg388018
hg198018
hg188018
hg178018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696156
Samples
Known GenesAMPD3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518705
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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