A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436979



Internal ID215582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148100363..148166849hg38UCSC Ensembl
chr2:148857932..148924418hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3866487
hg1966487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919055
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436979
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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