A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16963606



Internal ID43051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7798999..8835000hg38UCSC Ensembl
chr5:7799112..8835112hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381036002
hg191036001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473082
Supporting Variants
Samples
Known GenesADCY2, C5orf49, FASTKD3, LOC729506, MIR4458, MIR4458HG, MTRR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16963606
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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