A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555500



Internal ID328656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61112814..61113582hg38UCSC Ensembl
chr1:61578486..61579254hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904110
Samples
Known GenesNFIA
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555500
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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