A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433647



Internal ID21395649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176750107..176754804hg38UCSC Ensembl
chr2:177614835..177619532hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384698
hg194698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15751548
SamplesBTQ016
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433647
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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