A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16945786



Internal ID31195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:5811627..5812422hg38UCSC Ensembl
chr4:5813354..5814149hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38796
hg19796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140217
Supporting Variants
Samples
Known GenesEVC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16945786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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