A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4996n100



Internal ID22791083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:176940347..177167118hg38UCSC Ensembl
chr3:176658135..176884906hg19UCSC Ensembl
chr3:178140829..178367600hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38226772
hg19226772
hg18226772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009536, nsv1010720, nsv1014824
Samples
Known GenesTBL1XR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4996n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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