A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903060



Internal ID2857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56950692..56950742hg38UCSC Ensembl
chr1:57416365..57416415hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420840
Supporting Variants
Samples
Known GenesC8B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903060
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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