A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5n100



Internal ID19010373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:585989..1114424hg38UCSC Ensembl
chr1:356431..1049804hg19UCSC Ensembl
chr1:346294..1039667hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38528436
hg19693374
hg18693374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002919, nsv1008043
Samples
Known GenesAGRN, C1orf159, C1orf170, FAM41C, FAM87B, HES4, ISG15, KLHL17, LINC00115, LINC01128, LOC100130417, LOC100133331, LOC100288069, MIR6723, NOC2L, OR4F16, OR4F29, OR4F3, PLEKHN1, RNF223, SAMD11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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