A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301659



Internal ID22121989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44655243..44685821hg38UCSC Ensembl
chr21:46075160..46105736hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3830579
hg1930577
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231600
Supporting Variants
SamplesHG00512
Known GenesKRTAP12-1, KRTAP12-2, KRTAP12-3, TSPEAR
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301659
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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