A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066758



Internal ID18809289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36460442..36511804hg38UCSC Ensembl
Innerchr17:34816256..34867643hg19UCSC Ensembl
Innerchr17:31890369..31941756hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3851363
hg1951388
hg1851388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3154n100
Supporting Variantsnssv3562529
Samples
Known GenesMYO19, ZNHIT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066758
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