A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523182



Internal ID15450475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233579185..233597882hg38UCSC Ensembl
Innerchr1:233714931..233733628hg19UCSC Ensembl
Innerchr1:231781554..231800251hg18UCSC Ensembl
Innerchr1:230021666..230040363hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3818698
hg1918698
hg1818698
hg1718698
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv28n21
Supporting Variantsnssv698895
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523182
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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