A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516392



Internal ID15096999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53902580..53904057hg38UCSC Ensembl
Innerchr1:54368253..54369730hg19UCSC Ensembl
Innerchr1:54140841..54142318hg18UCSC Ensembl
Innerchr1:54080274..54081751hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381478
hg191478
hg181478
hg171478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663460, nssv677077, nssv668000, nssv662307, nssv686306, nssv679576, nssv691801, nssv671284
Samples
Known GenesDIO1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516392
Frequency
Sample Size2026
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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