A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16985879



Internal ID57998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50757370..50757673hg38UCSC Ensembl
chr6:50725083..50725386hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472744
Supporting Variants
Samples
Known GenesTFAP2D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16985879
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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