A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149679



Internal ID15876271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4416311..4479434hg38UCSC Ensembl
Innerchr17:4319606..4382729hg19UCSC Ensembl
Innerchr17:4266355..4329478hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3863124
hg1963124
hg1863124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574270
Supporting Variants
SamplesHGDP00813
Known GenesSPNS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149679
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