A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902672



Internal ID2600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47593129..47607778hg38UCSC Ensembl
chr1:48058801..48073450hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3814650
hg1914650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429256
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902672
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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