A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520207



Internal ID15447500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:5982874..5986204hg38UCSC Ensembl
Innerchr1:6042934..6046264hg19UCSC Ensembl
Innerchr1:5965521..5968851hg18UCSC Ensembl
Innerchr1:5977200..5980530hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg383331
hg193331
hg183331
hg173331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697281
Samples
Known GenesNPHP4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520207
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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