A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv172n100



Internal ID20151788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64838787..64869762hg38UCSC Ensembl
chr1:65304470..65335445hg19UCSC Ensembl
chr1:65077058..65108033hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3830976
hg1930976
hg1830976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006149, nsv1011697, nsv1001048
Samples
Known GenesJAK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv172n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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