A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562353



Internal ID335311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29022565..29214535hg38UCSC Ensembl
chr1:29349077..29541047hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38191971
hg19191971
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900492
Samples
Known GenesEPB41, MECR, SRSF4, TMEM200B
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562353
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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