A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526706



Internal ID15107313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56568148..56594558hg38UCSC Ensembl
Innerchr12:56961932..56988342hg19UCSC Ensembl
Innerchr12:55248199..55274609hg18UCSC Ensembl
Innerchr12:55248199..55274609hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3826411
hg1926411
hg1826411
hg1726411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703045
Samples
Known GenesRBMS2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526706
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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