A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446983



Internal ID225297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212720862..212720938hg38UCSC Ensembl
chr2:213585586..213585662hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924885
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446983
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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