A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903478



Internal ID3127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59462968..59466993hg38UCSC Ensembl
chr1:59928640..59932665hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg384026
hg194026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417402
Supporting Variants
Samples
Known GenesFGGY
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903478
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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