A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400137



Internal ID22458007
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 StatusS
Merged Variantsnsv5877712
Supporting Variants
Samples
Known GenesSOS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400137
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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