A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558117



Internal ID331191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73195048..73195082hg38UCSC Ensembl
chr10:74954806..74954840hg19UCSC Ensembl
Cytoband10q22.2
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 Variantsnssv17036016
Samples
Known GenesFAM149B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558117
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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