A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524563



Internal ID15105170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52691088..52693665hg38UCSC Ensembl
Innerchr12:53084872..53087449hg19UCSC Ensembl
Innerchr12:51371139..51373716hg18UCSC Ensembl
Innerchr12:51371139..51373716hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382578
hg192578
hg182578
hg172578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700517
Samples
Known GenesKRT77
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524563
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