A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142308



Internal ID341508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75440779..75446779hg38UCSC Ensembl
chr7:75070057..75076052hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386001
hg195996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001091
Samples
Known GenesPOM121C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142308
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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