A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998066



Internal ID66252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72947689..72995779hg38UCSC Ensembl
chr7:72418228..72466308hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3848091
hg1948081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142507
Supporting Variants
Samples
Known GenesLOC100101148, LOC541473, NSUN5P2, POM121
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998066
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000643


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