A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3071n100



Internal ID20154687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:150721..853554hg38UCSC Ensembl
chr17:514..756794hg19UCSC Ensembl
chr17:514..703544hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38702834
hg19756281
hg18703031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066813, nsv1066240, nsv1055732
Samples
Known GenesC17orf97, DBIL5P, DOC2B, FAM101B, FAM57A, GEMIN4, GLOD4, LOC100506371, LOC100506388, NXN, RNMTL1, RPH3AL, VPS53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3071n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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