A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554131



Internal ID20927238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40301574..40302316hg38UCSC Ensembl
chr2:40528714..40529456hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38743
hg19743
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18257903
Samples
Known GenesSLC8A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554131
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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