A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730189



Internal ID21401000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40022914..40039149hg38UCSC Ensembl
chr21:41394841..41411076hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3816236
hg1916236
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16256258, nssv16256419, nssv16256578, nssv16258713, nssv16257037, nssv16256395, nssv16257556, nssv16257109, nssv16257911, nssv16255905, nssv16256546, nssv16256844, nssv16258140, nssv16255927, nssv16257218, nssv16258877, nssv16256191, nssv16257369
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730189
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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