A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141369



Internal ID340565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163425301..163470023hg38UCSC Ensembl
chr5:162852307..162897029hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3844723
hg1944723
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977018
Samples
Known GenesCCNG1, HMMR, NUDCD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141369
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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