A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900994



Internal ID22676142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202641441..202652072hg38UCSC Ensembl
chr2:203506164..203516795hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3810632
hg1910632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400736
Samples
Known GenesFAM117B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900994
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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