A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730212



Internal ID21401023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17769997..17860381hg38UCSC Ensembl
chr12:17922931..18013315hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3890385
hg1990385
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16256704, nssv16256367, nssv16257754, nssv16258627, nssv16256560, nssv16256596, nssv16257088, nssv16256573, nssv16256815, nssv16256504, nssv16257970, nssv16256028, nssv16257447, nssv16257324, nssv16256803, nssv16257085, nssv16257135, nssv16257988
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730212
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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