A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574673



Internal ID16015396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31313044..31321528hg38UCSC Ensembl
Innerchr17:29640062..29648546hg19UCSC Ensembl
Innerchr17:26664188..26672672hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388485
hg198485
hg188485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5520n54
Supporting Variantsnssv869528
Samples
Known GenesEVI2A, EVI2B, NF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574673
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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