A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16999330



Internal ID67125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88430540..88430540hg38UCSC Ensembl
chr7:88059855..88059855hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535808
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16999330
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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