A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436220



Internal ID214841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181908889..181909533hg38UCSC Ensembl
chr2:182773616..182774260hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927460
Samples
Known GenesSSFA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436220
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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