A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001173



Internal ID68368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78267406..78271144hg38UCSC Ensembl
chr7:77896723..77900461hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg383739
hg193739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478701
Supporting Variants
Samples
Known GenesMAGI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001173
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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