A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554649



Internal ID327828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131260840..131506065hg38UCSC Ensembl
chr6:131581980..131827205hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38245226
hg19245226
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969465
Samples
Known GenesAKAP7
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554649
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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