A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064384



Internal ID18806915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58972158..59269333hg38UCSC Ensembl
Innerchr17:57049519..57346694hg19UCSC Ensembl
Innerchr17:54404301..54701476hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38297176
hg19297176
hg18297176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3270n100
Supporting Variantsnssv3567707
Samples
Known GenesGDPD1, MIR301A, MIR454, PPM1E, PRR11, SKA2, SMG8, TRIM37
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064384
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