A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547430



Internal ID20920631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29022567..29214536hg38UCSC Ensembl
chr1:29349079..29541048hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38191970
hg19191970
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18252356
Samples
Known GenesEPB41, MECR, SRSF4, TMEM200B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547430
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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