A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549062



Internal ID20922233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55638459..55638878hg38UCSC Ensembl
chr2:55865594..55866013hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18258251
Samples
Known GenesPNPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549062
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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