A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967464



Internal ID45623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71653418..71653476hg38UCSC Ensembl
chr5:70949245..70949303hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141108
Supporting Variants
Samples
Known GenesMCCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967464
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003916


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