A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517546



Internal ID15444839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232374259..232377920hg38UCSC Ensembl
Innerchr1:232510005..232513666hg19UCSC Ensembl
Innerchr1:230576628..230580289hg18UCSC Ensembl
Innerchr1:228816740..228820401hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383662
hg193662
hg183662
hg173662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv652329, nssv658706
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517546
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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