A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977990



Internal ID52730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3134307..3134359hg38UCSC Ensembl
chr6:3134541..3134593hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141160
Supporting Variants
Samples
Known GenesBPHL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977990
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001875


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