A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065442



Internal ID18807973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59158105..59247609hg38UCSC Ensembl
Innerchr17:57235466..57324970hg19UCSC Ensembl
Innerchr17:54590248..54679752hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3889505
hg1989505
hg1889505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567712
Samples
Known GenesGDPD1, PRR11, SMG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065442
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