A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525202



Internal ID15105809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56610884..56620060hg38UCSC Ensembl
Innerchr12:57004668..57013844hg19UCSC Ensembl
Innerchr12:55290935..55300111hg18UCSC Ensembl
Innerchr12:55290935..55300111hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg389177
hg199177
hg189177
hg179177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701284
Samples
Known GenesBAZ2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525202
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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