A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16945860



Internal ID31247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9322916..9809500hg38UCSC Ensembl
chr4:9324643..9811124hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38486585
hg19486482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444642
Supporting Variants
Samples
Known GenesDEFB131, DRD5, MIR548I2, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16945860
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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