A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3478916



Internal ID18721674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12778589..12858224hg38UCSC Ensembl
Innerchr1:12838732..12918079hg19UCSC Ensembl
Innerchr1:12761319..12840666hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3879636
hg1979348
hg1879348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014734
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3478916
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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