A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516742



Internal ID15444035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58256638..58267378hg38UCSC Ensembl
Innerchr1:58722310..58733050hg19UCSC Ensembl
Innerchr1:58494898..58505638hg18UCSC Ensembl
Innerchr1:58434331..58445071hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3810741
hg1910741
hg1810741
hg1710741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv670576, nssv693252, nssv694369
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516742
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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