A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495948



Internal ID273042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63842317..63875214hg38UCSC Ensembl
chr11:63609789..63642686hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3832898
hg1932898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046663
Samples
Known GenesMARK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495948
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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