A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998983



Internal ID66892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:85072335..85072386hg38UCSC Ensembl
chr7:84701651..84701702hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404232
Supporting Variants
Samples
Known GenesSEMA3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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