A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977991



Internal ID52731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3134746..3135001hg38UCSC Ensembl
chr6:3134980..3135235hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463938
Supporting Variants
Samples
Known GenesBPHL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977991
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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