A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6595178



Internal ID20968249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19560915..21260707hg38UCSC Ensembl
chr13:20135055..21834846hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381699793
hg191699792
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1762n223
Supporting Variantsnssv18232678
Samples
Known GenesCRYL1, GJA3, GJB2, GJB6, IFT88, IL17D, LATS2, LINC00367, MIR4499, MPHOSPH8, MRP63, N6AMT2, PSPC1, SAP18, SKA3, TPTE2, XPO4, ZMYM2, ZMYM5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6595178
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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