A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv472n206



Internal ID22755776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75271000..75278750hg38UCSC Ensembl
chr7:74686652..74693567hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387751
hg196916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6142243, nsv6142841
Samples
Known GenesGTF2IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv472n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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