A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061858



Internal ID18804389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4550520..4602789hg38UCSC Ensembl
Innerchr17:4453815..4506084hg19UCSC Ensembl
Innerchr17:4400564..4452833hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3852270
hg1952270
hg1852270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560129
Samples
Known GenesGGT6, MYBBP1A, SMTNL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061858
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