A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519479



Internal ID15446772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42051099..42124432hg38UCSC Ensembl
Innerchr1:42516770..42590103hg19UCSC Ensembl
Innerchr1:42289357..42362690hg18UCSC Ensembl
Innerchr1:42185863..42259196hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3873334
hg1973334
hg1873334
hg1773334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671865, nssv656348
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519479
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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