A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516277



Internal ID15443570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226637640..226645603hg38UCSC Ensembl
Innerchr1:226825341..226833304hg19UCSC Ensembl
Innerchr1:224891964..224899927hg18UCSC Ensembl
Innerchr1:223132076..223140039hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg387964
hg197964
hg187964
hg177964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663808, nssv667279, nssv670946, nssv673552, nssv677712
Samples
Known GenesITPKB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516277
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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