A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902981



Internal ID2805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51248392..51254630hg38UCSC Ensembl
chr1:51714064..51720302hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg386239
hg196239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415495
Supporting Variants
Samples
Known GenesRNF11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902981
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001874


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