A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522964



Internal ID15103571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106595847..106597063hg38UCSC Ensembl
Innerchr12:106989625..106990841hg19UCSC Ensembl
Innerchr12:105513755..105514971hg18UCSC Ensembl
Innerchr12:105492092..105493308hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381217
hg191217
hg181217
hg171217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698633
Samples
Known GenesLOC100287944, RFX4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522964
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