A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3477876



Internal ID18721100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:84153481..84202267hg38UCSC Ensembl
Innerchr1:84619164..84667950hg19UCSC Ensembl
Innerchr1:84391752..84440538hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3848787
hg1948787
hg1848787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013911
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)nssv3477876
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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