A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3481590



Internal ID18723091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:84145524..84192767hg38UCSC Ensembl
Innerchr1:84611207..84658450hg19UCSC Ensembl
Innerchr1:84383795..84431038hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3847244
hg1947244
hg1847244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002537
Supporting Variants
Samples
Known GenesPRKACB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3481590
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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