A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984657



Internal ID57157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40466431..40468694hg38UCSC Ensembl
chr6:40434170..40436433hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382264
hg192264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467286
Supporting Variants
Samples
Known GenesLRFN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984657
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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