A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444300



Internal ID222678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181699618..181727618hg38UCSC Ensembl
chr2:182564345..182592345hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3828001
hg1928001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927435
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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