A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575389



Internal ID16016112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46565999..46590890hg38UCSC Ensembl
Innerchr17:44643365..44668256hg19UCSC Ensembl
Innerchr17:41998681..42023572hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3824892
hg1924892
hg1824892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv872821, nssv872822
Samples
Known GenesARL17A, ARL17B, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575389
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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