A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523972



Internal ID15104579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:115958024..116809541hg38UCSC Ensembl
Innerchr6:116279187..117130704hg19UCSC Ensembl
Innerchr6:116385880..117237397hg18UCSC Ensembl
Innerchr6:116385880..117237397hg17UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38851518
hg19851518
hg18851518
hg17851518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699825
Samples
Known GenesCOL10A1, DSE, FAM162B, FAM26D, FAM26E, FAM26F, FRK, GPRC6A, KPNA5, NT5DC1, RSPH4A, RWDD1, TPI1P3, TRAPPC3L, TSPYL1, TSPYL4, ZUFSP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523972
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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