A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6541943



Internal ID20915211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108336670..109113885hg38UCSC Ensembl
chr2:108953126..109730341hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38777216
hg19777216
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18256448
Samples
Known GenesCCDC138, EDAR, GCC2, LIMS1, RANBP2, SULT1C2P1, SULT1C4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6541943
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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