A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543090



Internal ID20916341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48683905..48685043hg38UCSC Ensembl
chr2:48911044..48912182hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381139
hg191139
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18258698
Samples
Known GenesSTON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543090
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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