A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481970



Internal ID22539875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199455084..199456083hg38UCSC Ensembl
chr2:200319807..200320806hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832145
Supporting Variants
Samples
Known GenesSATB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481970
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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