A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574489



Internal ID16015212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16491622..16492312hg38UCSC Ensembl
Innerchr17:16394936..16395626hg19UCSC Ensembl
Innerchr17:16335661..16336351hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38691
hg19691
hg18691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5475n54
Supporting Variantsnssv868773, nssv868772
Samples
Known GenesFAM211A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574489
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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