A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482955



Internal ID260399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140469261..140470510hg38UCSC Ensembl
chr7:140169061..140170310hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003382
Samples
Known GenesMKRN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482955
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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