A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246621



Internal ID22376468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75698000..75773280hg38UCSC Ensembl
chr5:74993825..75069105hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3875281
hg1975281
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321173
SamplesHG00512
Known GenesPOC5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246621
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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