A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6555176



Internal ID20928266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119687743..119750539hg38UCSC Ensembl
chr1:120230366..120293162hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3862797
hg1962797
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18249898
Samples
Known GenesHMGCS2, PHGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6555176
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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