A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888204



Internal ID22663206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113080410..113081843hg38UCSC Ensembl
chr5:112416107..112417540hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg381434
hg191434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415851
Samples
Known GenesMCC
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888204
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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