A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003179



Internal ID69734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129926469..129926734hg38UCSC Ensembl
chr7:129566309..129566574hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5493698
Supporting Variants
Samples
Known GenesUBE2H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003179
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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