A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539331



Internal ID314294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75197034..75197043hg38UCSC Ensembl
chr7:74612756..74612765hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001073
Samples
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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