A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528703



Internal ID15109310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12760937..12854043hg38UCSC Ensembl
Innerchr1:12820870..12913896hg19UCSC Ensembl
Innerchr1:12743457..12836483hg18UCSC Ensembl
Innerchr1:12755136..12848162hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3893107
hg1993027
hg1893027
hg1793027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705350
Samples
Known GenesC1orf158, HNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528703
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