A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528838



Internal ID15109445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32300998..32301351hg38UCSC Ensembl
Innerchr12:32453932..32454285hg19UCSC Ensembl
Innerchr12:32345199..32345552hg18UCSC Ensembl
Innerchr12:32345199..32345552hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38354
hg19354
hg18354
hg17354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705515
Samples
Known GenesBICD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528838
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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