A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv969n67



Internal ID6317237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134353751..134394862hg19UCSC Ensembl
chr5:134381650..134422761hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv823238, nsv823241
SamplesNA18973, AK10
Known GenesPITX1
Method
Analysis
Platform
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)dgv969n67
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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