A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436824



Internal ID215431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110057618..110259618hg38UCSC Ensembl
chr2:110815195..111017195hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38202001
hg19202001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917248
Samples
Known GenesLINC00116, LOC100507334, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436824
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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