A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17002586



Internal ID69342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128751156..128751216hg38UCSC Ensembl
chr7:128391210..128391270hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487987
Supporting Variants
Samples
Known GenesCALU
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17002586
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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