A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888728



Internal ID22663738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112520425..112528679hg38UCSC Ensembl
chr2:113278002..113286256hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg388255
hg198255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400453
Samples
Known GenesTTL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888728
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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