A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995971



Internal ID64757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54754647..54754722hg38UCSC Ensembl
chr7:54822340..54822415hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484015
Supporting Variants
Samples
Known GenesSEC61G
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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