A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906544



Internal ID22681745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227155070..227158079hg38UCSC Ensembl
chr2:228019786..228022795hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg383010
hg193010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396263
Samples
Known GenesCOL4A4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906544
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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