A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444636



Internal ID223007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:150863589..152862185hg38UCSC Ensembl
chr2:151720103..153718699hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381998597
hg191998597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920925
Samples
Known GenesARL5A, ARL6IP6, CACNB4, FMNL2, MIR4773-1, MIR4773-2, NEB, NMI, PRPF40A, RBM43, RIF1, STAM2, TNFAIP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444636
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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