A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903381



Internal ID22678548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227330844..227332415hg38UCSC Ensembl
chr2:228195560..228197131hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381572
hg191572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409027
Samples
Known GenesMFF
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903381
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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