A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16956598



Internal ID38374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:146337249..146337300hg38UCSC Ensembl
chr4:147258401..147258452hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395935
Supporting Variants
Samples
Known GenesSLC10A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16956598
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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