A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv652821



Internal ID15042787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837862..74652981hg38UCSC Ensembl
Innerchr17:71834001..72649120hg19UCSC Ensembl
Innerchr17:69345596..70160715hg18UCSC Ensembl
Innerchr17:69345596..70160715hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38815120
hg19815120
hg18815120
hg17815120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517569
Supporting Variants
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RPL38, TTYH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv652821
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