A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022902



Internal ID18765436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65064844..65204090hg38UCSC Ensembl
Innerchr5:64360671..64499917hg19UCSC Ensembl
Innerchr5:64396427..64535673hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38139247
hg19139247
hg18139247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5693n100
Supporting Variantsnssv3640791
Samples
Known GenesADAMTS6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022902
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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