A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557705



Internal ID330794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8278296..8282599hg38UCSC Ensembl
chr2:8418426..8422729hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg384304
hg194304
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909659
Samples
Known GenesLINC00299
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557705
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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