A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063488



Internal ID18806019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46199005..46645464hg38UCSC Ensembl
Innerchr17:44276371..44722830hg19UCSC Ensembl
Innerchr17:41632148..42078146hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38446460
hg19446460
hg18445999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3233n100
Supporting Variantsnssv3557450
Samples
Known GenesARL17A, ARL17B, KANSL1, LOC644172, 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)nsv1063488
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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