A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16257369



Internal ID21398377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40024041..40038183hg38UCSC Ensembl
chr21:41395968..41410110hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3814143
hg1914143
Variant TypeOTHER inversion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730189
Supporting Variants
SamplesHG00513
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16257369
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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