A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519657



Internal ID15100264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120095892..120238287hg38UCSC Ensembl
Innerchr12:120533696..120676090hg19UCSC Ensembl
Innerchr12:119018079..119160473hg18UCSC Ensembl
Innerchr12:118996416..119138810hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38142396
hg19142395
hg18142395
hg17142395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696976
Samples
Known GenesGCN1L1, MIR4498, PXN, PXN-AS1, RAB35, RPLP0
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519657
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