A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064771



Internal ID18807302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46645453hg38UCSC Ensembl
Innerchr17:44394400..44722819hg19UCSC Ensembl
Innerchr17:41750175..42078135hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38328420
hg19328420
hg18327961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3253n100
Supporting Variantsnssv3565995
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)nsv1064771
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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