A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518544



Internal ID15445837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39640423..39646938hg38UCSC Ensembl
Innerchr1:40106095..40112610hg19UCSC Ensembl
Innerchr1:39878682..39885197hg18UCSC Ensembl
Innerchr1:39775188..39781703hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386516
hg196516
hg186516
hg176516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695987
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518544
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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