A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701284



Internal ID15091250
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525202
Supporting Variants
Samples
Known GenesBAZ2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701284
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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