A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557996



Internal ID331073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:146484271..146484288hg38UCSC Ensembl
chr2:147241839..147241856hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3818
hg1918
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925385
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557996
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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