A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730094



Internal ID21400910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138245634..138251784hg38UCSC Ensembl
chr2:139003204..139009354hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg386151
hg196151
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16256134, nssv16257101, nssv16258271, nssv16257289, nssv16257335, nssv16258799, nssv16258329, nssv16256418, nssv16257008, nssv16258389, nssv16257036, nssv16256634, nssv16256498, nssv16256244, nssv16258101, nssv16258735, nssv16256000, nssv16256281, nssv16258716, nssv16257938, nssv16258365, nssv16256060, nssv16256456, nssv16258865, nssv16256576, nssv16258124, nssv16256248, nssv16257699, nssv16256575, nssv16257723, nssv16258784, nssv16257493, nssv16257283
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730094
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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