A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696762



Internal ID15433414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4332740..4366028hg38UCSC Ensembl
Innerchr12:4441906..4475194hg19UCSC Ensembl
Innerchr12:4312167..4345455hg18UCSC Ensembl
Innerchr12:4312167..4345455hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3833289
hg1933289
hg1833289
hg1733289
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519278
Supporting Variants
Samples
Known GenesC12orf5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696762
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer