A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3074n100



Internal ID20154690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:717681..865635hg38UCSC Ensembl
chr17:620921..768875hg19UCSC Ensembl
chr17:567671..715625hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38147955
hg19147955
hg18147955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058636, nsv1066676
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3074n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer