A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574524



Internal ID16015247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17505170..17511280hg38UCSC Ensembl
Innerchr17:17408484..17414594hg19UCSC Ensembl
Innerchr17:17349209..17355319hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386111
hg196111
hg186111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv868858
Samples
Known GenesPEMT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574524
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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