A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4015251



Internal ID22076882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12781785..12868035hg38UCSC Ensembl
Outerchr1:12779433..12923686hg38UCSC Ensembl
Innerchr1:12841928..12927856hg19UCSC Ensembl
Outerchr1:12839576..12983506hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38144254
hg19143931
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155850
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4015251
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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