A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549950



Internal ID323556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73578937..73578937hg38UCSC Ensembl
chr5:72874762..72874762hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966769
Samples
Known GenesUTP15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549950
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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