A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001028



Internal ID68261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74884779..74902779hg38UCSC Ensembl
chr7:74300893..74318893hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3818001
hg1918001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141643
Supporting Variants
Samples
Known GenesPMS2P5, STAG3L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001028
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.018945


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