A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065613



Internal ID18808144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46569765..46674922hg38UCSC Ensembl
Innerchr17:44647131..44752288hg19UCSC Ensembl
Innerchr17:42002447..42107467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38105158
hg19105158
hg18105021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3260n100
Supporting Variantsnssv3568594, nssv3568597, nssv3724973, nssv3568596, nssv3568595
Samples
Known GenesARL17A, ARL17B, 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)nsv1065613
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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