A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557666



Internal ID330758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6304536..6306133hg38UCSC Ensembl
chr1:6364596..6366193hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381598
hg191598
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905346
Samples
Known GenesACOT7
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557666
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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