A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142219



Internal ID341419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134190878..134190946hg38UCSC Ensembl
chr7:133875630..133875698hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003279
Samples
Known GenesLRGUK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142219
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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