A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16956005



Internal ID37976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147515135..147515186hg38UCSC Ensembl
chr4:148436287..148436338hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408901
Supporting Variants
Samples
Known GenesEDNRA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16956005
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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