A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061900



Internal ID18804431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46331284..46588293hg38UCSC Ensembl
Innerchr17:44408650..44665659hg19UCSC Ensembl
Innerchr17:41764411..42020975hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38257010
hg19257010
hg18256565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3253n100
Supporting Variantsnssv3567104
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061900
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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