A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574672



Internal ID16015395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31310290..31321713hg38UCSC Ensembl
Innerchr17:29637308..29648731hg19UCSC Ensembl
Innerchr17:26661434..26672857hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3811424
hg1911424
hg1811424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5520n54
Supporting Variantsnssv869527
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)nsv574672
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer