A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894138



Internal ID170247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:495000..514968hg38UCSC Ensembl
chr5:180730629..180750952hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3819969
hg1920324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138374
Supporting Variants
Samples
Known GenesLOC100132062, LOC100132287, LOC100133331
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894138
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002378


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