A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908700



Internal ID6592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102591277..102718708hg38UCSC Ensembl
chr1:103056833..103184264hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38127432
hg19127432
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424362
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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