A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057062



Internal ID18799593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46600614hg38UCSC Ensembl
Innerchr17:44394400..44677980hg19UCSC Ensembl
Innerchr17:41750175..42033296hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38283581
hg19283581
hg18283122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3253n100
Supporting Variantsnssv3565950, nssv3565951
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057062
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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