A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16960806



Internal ID41182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1602000..1833000hg38UCSC Ensembl
chr5:1602115..1833114hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38231001
hg19231000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141102
Supporting Variants
Samples
Known GenesLOC728613, MIR4277, MRPL36, NDUFS6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16960806
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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