A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575307



Internal ID16016030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46348723..46489976hg38UCSC Ensembl
Innerchr17:44426089..44567342hg19UCSC Ensembl
Innerchr17:41781845..41922658hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38141254
hg19141254
hg18140814
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5646n54
Supporting Variantsnssv872623, nssv872620, nssv872622, nssv872621
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)nsv575307
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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