A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575303



Internal ID16016026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46348723..46414176hg38UCSC Ensembl
Innerchr17:44426089..44491542hg19UCSC Ensembl
Innerchr17:41781845..41846978hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3865454
hg1965454
hg1865134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5649n54
Supporting Variantsnssv872611
Samples
Known GenesARL17A, ARL17B, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575303
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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