A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142147



Internal ID341347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75268600..75282000hg38UCSC Ensembl
chr7:74684230..74696811hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3813401
hg1912582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001078
Samples
Known GenesGTF2IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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