A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477901



Internal ID255467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131235278..131235504hg38UCSC Ensembl
chr7:130920037..130920263hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003619
Samples
Known GenesMKLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477901
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer