A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062291



Internal ID18804822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46480529hg38UCSC Ensembl
Innerchr17:44394400..44557895hg19UCSC Ensembl
Innerchr17:41750175..41913211hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38163496
hg19163496
hg18163037
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3246n100
Supporting Variantsnssv3565924, nssv3725578, nssv3565917, nssv3565919, nssv3565926, nssv3565922, nssv3565915, nssv3565914, nssv3565921, nssv3565916, nssv3565918, nssv3565909, nssv3565908, nssv3565913, nssv3565911, nssv3565923, nssv3565925, nssv3565910, nssv3565920, nssv3565912
Samples
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062291
Frequency
Sample Size29084
Observed Gain3
Observed Loss17
Observed Complex0
Frequencyn/a


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