A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730054



Internal ID21400870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75205371..75223630hg38UCSC Ensembl
chr16:75239269..75257528hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3818260
hg1918260
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16257449, nssv16256732, nssv16256383, nssv16258052, nssv16256272, nssv16257391, nssv16257602, nssv16258157, nssv16256433, nssv16257837, nssv16257582, nssv16258093, nssv16256361, nssv16257363, nssv16257681, nssv16256728, nssv16258733, nssv16257743
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCTRB1, CTRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730054
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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