A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3249n100



Internal ID20154865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46267481..46628597hg38UCSC Ensembl
chr17:44344847..44705963hg19UCSC Ensembl
chr17:41700624..42061279hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38361117
hg19361117
hg18360656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062720, nsv1056025, nsv1061731, nsv1059015, nsv1057483
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)dgv3249n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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