A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060051



Internal ID18802582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46267481..46331296hg38UCSC Ensembl
Innerchr17:44344847..44408662hg19UCSC Ensembl
Innerchr17:41700624..41764423hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3863816
hg1963816
hg1863800
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3245n100
Supporting Variantsnssv3564228, nssv3564230, nssv3564229, nssv3564225, nssv3564227, nssv3564231, nssv3564226
Samples
Known GenesARL17A, ARL17B, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060051
Frequency
Sample Size29084
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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