A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574271



Internal ID16361680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4417249..4474684hg38UCSC Ensembl
Innerchr17:4320544..4377979hg19UCSC Ensembl
Innerchr17:4267293..4324728hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3857436
hg1957436
hg1857436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5430n54
Supporting Variantsnssv866558
Samples
Known GenesSPNS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574271
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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