A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147029



Internal ID346235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221566865..221567011hg38UCSC Ensembl
chr2:222431585..222431731hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928320
Samples
Known GenesEPHA4
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147029
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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