A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523247



Internal ID15450540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226434077..226438576hg38UCSC Ensembl
Innerchr1:226621778..226626277hg19UCSC Ensembl
Innerchr1:224688401..224692900hg18UCSC Ensembl
Innerchr1:222928513..222933012hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg384500
hg194500
hg184500
hg174500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698976
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523247
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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