A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904244



Internal ID22679420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208225559..208232715hg38UCSC Ensembl
chr2:209090283..209097439hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg387157
hg197157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401744
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904244
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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