A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905780



Internal ID22680972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196698852..196701608hg38UCSC Ensembl
chr2:197563576..197566332hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382757
hg192757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406356
Samples
Known GenesCCDC150, LOC100130452
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905780
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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