A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525593



Internal ID15106200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9968748..10004047hg38UCSC Ensembl
Innerchr12:10121347..10156646hg19UCSC Ensembl
Innerchr12:10012614..10047913hg18UCSC Ensembl
Innerchr12:10012614..10047913hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3835300
hg1935300
hg1835300
hg1735300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701735
Samples
Known GenesCLEC12A, CLEC1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525593
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