A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6539972



Internal ID20913267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178839629..178991590hg38UCSC Ensembl
chr1:178808764..178960725hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38151962
hg19151962
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv450n223
Supporting Variantsnssv18247813
Samples
Known GenesANGPTL1, RALGPS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6539972
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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