A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516242



Internal ID15096849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8144851..8147661hg38UCSC Ensembl
Innerchr17:8048169..8050979hg19UCSC Ensembl
Innerchr17:7988894..7991704hg18UCSC Ensembl
Innerchr17:7988894..7991704hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382811
hg192811
hg182811
hg172811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667001, nssv678432
Samples
Known GenesMIR6883, PER1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516242
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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