A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574277



Internal ID16015000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4975665..5051911hg38UCSC Ensembl
Innerchr17:4878960..4955206hg19UCSC Ensembl
Innerchr17:4819684..4895930hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3876247
hg1976247
hg1876247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5431n54
Supporting Variantsnssv866564
Samples
Known GenesCAMTA2, INCA1, KIF1C, SLC52A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574277
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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