A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056263



Internal ID18798794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46351303..46717894hg38UCSC Ensembl
Innerchr17:44428669..44795260hg19UCSC Ensembl
Innerchr17:41784425..42150444hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38366592
hg19366592
hg18366020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3255n100
Supporting Variantsnssv3568397
Samples
Known GenesARL17A, ARL17B, 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)nsv1056263
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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