A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475226



Internal ID252870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77540195..77540292hg38UCSC Ensembl
chr7:77169512..77169609hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001160
Samples
Known GenesPTPN12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475226
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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