A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16953785



Internal ID36536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87841456..87841507hg38UCSC Ensembl
chr4:88762608..88762659hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407369
Supporting Variants
Samples
Known GenesMEPE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16953785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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