A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574224



Internal ID16014947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2269769..2423186hg38UCSC Ensembl
Innerchr17:2173063..2326480hg19UCSC Ensembl
Innerchr17:2119813..2273230hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38153418
hg19153418
hg18153418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv866439
Samples
Known GenesLOC284009, METTL16, MNT, SGSM2, SMG6, SNORD91A, SNORD91B, SRR, TSR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574224
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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