A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542319



Internal ID316749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66904231..66904231hg38UCSC Ensembl
chr7:66369218..66369218hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998193
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542319
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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