A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555564



Internal ID328718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122287583..122287634hg38UCSC Ensembl
chr9:125049862..125049913hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027753
Samples
Known GenesMRRF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555564
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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