A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902973



Internal ID2800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51125054..51134919hg38UCSC Ensembl
chr1:51590726..51600591hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg389866
hg199866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419827
Supporting Variants
Samples
Known GenesC1orf185
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902973
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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