A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059717



Internal ID19148936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21409416..21629477hg38UCSC Ensembl
Innerchr17:21312728..21536327hg19UCSC Ensembl
Innerchr17:21253321..21476920hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38220062
hg19223600
hg18223600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3124n100
Supporting Variantsnssv3560939, nssv3560938
Samples
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059717
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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