A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556892



Internal ID330016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129442566..129444182hg38UCSC Ensembl
chr6:129763711..129765327hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg381617
hg191617
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969370
Samples
Known GenesLAMA2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556892
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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