A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516756



Internal ID15444049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2632573..2675354hg38UCSC Ensembl
Innerchr17:2535867..2578648hg19UCSC Ensembl
Innerchr17:2482617..2525398hg18UCSC Ensembl
Innerchr17:2482617..2525398hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3842782
hg1942782
hg1842782
hg1742782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv670647, nssv689971, nssv673653, nssv659332
Samples
Known GenesPAFAH1B1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516756
Frequency
Sample Size2026
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer