A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3478122



Internal ID19067919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21694652..21741766hg38UCSC Ensembl
Innerchr1:22021145..22068259hg19UCSC Ensembl
Innerchr1:21893732..21940846hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3847115
hg1947115
hg1847115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008548
Supporting Variants
Samples
Known GenesUSP48
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3478122
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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