A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16999827



Internal ID67471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66464069..66581695hg38UCSC Ensembl
chr7:65929056..66046682hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38117627
hg19117627
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492276
Supporting Variants
Samples
Known GenesLOC493754
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16999827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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