A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065393



Internal ID18807924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46267481..46582828hg38UCSC Ensembl
Innerchr17:44344847..44660194hg19UCSC Ensembl
Innerchr17:41700624..42015510hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38315348
hg19315348
hg18314887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3248n100
Supporting Variantsnssv3564243
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)nsv1065393
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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