A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3257n100



Internal ID20154873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46427863..46707604hg38UCSC Ensembl
chr17:44505229..44784970hg19UCSC Ensembl
chr17:41860664..42140153hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38279742
hg19279742
hg18279490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1067281, nsv1065014, nsv1064347
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)dgv3257n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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