A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141969



Internal ID341169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72941779..72957779hg38UCSC Ensembl
chr7:72412318..72428310hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3816001
hg1915993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998061
Samples
Known GenesNSUN5P2, POM121
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141969
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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