A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575088



Internal ID16015811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44352876..44354844hg38UCSC Ensembl
Innerchr17:42430244..42432212hg19UCSC Ensembl
Innerchr17:39785770..39787738hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381969
hg191969
hg181969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5607n54
Supporting Variantsnssv872222
Samples
Known GenesFAM171A2, GRN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575088
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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