A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528808



Internal ID15109415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65386076..65513234hg38UCSC Ensembl
Innerchr1:65851759..65978917hg19UCSC Ensembl
Innerchr1:65624347..65751505hg18UCSC Ensembl
Innerchr1:65563780..65690938hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38127159
hg19127159
hg18127159
hg17127159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705482
Samples
Known GenesDNAJC6, LEPR, LEPROT
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528808
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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