A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892998



Internal ID22668055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149213238..149213311hg38UCSC Ensembl
chr2:150069752..150069825hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398783
Samples
Known GenesLYPD6B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892998
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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