A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16945397



Internal ID30935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6975001..6980755hg38UCSC Ensembl
chr4:6976728..6982482hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385755
hg195755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434776
Supporting Variants
Samples
Known GenesTBC1D14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16945397
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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