A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003213



Internal ID69758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130208666..130215781hg38UCSC Ensembl
chr7:129848506..129855621hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg387116
hg197116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484030
Supporting Variants
Samples
Known GenesSSMEM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003213
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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