A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142646



Internal ID341847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75402100..75440779hg38UCSC Ensembl
chr7:75031383..75070057hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3838680
hg1938675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001089
Samples
Known GenesNSUN5P1, POM121C, TRIM73, TRIM74
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142646
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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