A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5895631



Internal ID22670716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199314341..199318835hg38UCSC Ensembl
chr2:200179064..200183558hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384495
hg194495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404357
Samples
Known GenesSATB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5895631
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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