A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998061



Internal ID66248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72941779..72957779hg38UCSC Ensembl
chr7:72412318..72428310hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3816001
hg1915993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141969
Supporting Variants
Samples
Known GenesNSUN5P2, POM121
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998061
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000319


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