A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996690



Internal ID65281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54001014..54001276hg38UCSC Ensembl
chr7:54068707..54068969hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488208
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996690
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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