A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065564



Internal ID18808095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46199005..46628597hg38UCSC Ensembl
Innerchr17:44276371..44705963hg19UCSC Ensembl
Innerchr17:41632148..42061279hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38429593
hg19429593
hg18429132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3233n100
Supporting Variantsnssv3557449
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)nsv1065564
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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