A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444333



Internal ID222709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236479809..236524321hg38UCSC Ensembl
chr2:237388452..237432964hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3844513
hg1944513
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925174
Samples
Known GenesIQCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444333
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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