A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3698003



Internal ID18649598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792599..12938438hg38UCSC Ensembl
Innerchr1:12852748..12998268hg19UCSC Ensembl
Innerchr1:12775335..12920855hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38145840
hg19145521
hg18145521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998447
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3698003
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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