A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521164



Internal ID15448457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:12216468..12230869hg38UCSC Ensembl
Innerchr17:12119785..12134186hg19UCSC Ensembl
Innerchr17:12060510..12074911hg18UCSC Ensembl
Innerchr17:12060510..12074911hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3814402
hg1914402
hg1814402
hg1714402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697822
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521164
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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