A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5877712



Internal ID22652676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39036843..39036938hg38UCSC Ensembl
chr2:39263984..39264079hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400137
Samples
Known GenesSOS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5877712
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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