A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574653



Internal ID16015376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28227749..28501479hg38UCSC Ensembl
Innerchr17:26554775..26828497hg19UCSC Ensembl
Innerchr17:23578902..23852624hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38273731
hg19273723
hg18273723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv869007
Samples
Known GenesIFT20, KRT18P55, MIR4723, POLDIP2, PPY2, PYY2, SARM1, SEBOX, SLC13A2, SLC46A1, TMEM199, TMEM97, TNFAIP1, VTN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574653
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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