A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730086



Internal ID21400902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108224909..108483838hg38UCSC Ensembl
chr1:108767531..109026460hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38258930
hg19258930
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16257700, nssv16256203, nssv16258172, nssv16258177, nssv16255950, nssv16256357, nssv16256632, nssv16256666, nssv16256121, nssv16257381, nssv16257870, nssv16257017, nssv16256350, nssv16256044, nssv16258717, nssv16256761, nssv16258477, nssv16257832, nssv16258293, nssv16256532, nssv16256694, nssv16258623, nssv16257031, nssv16257640, nssv16256620, nssv16256417, nssv16256740, nssv16258793, nssv16256949, nssv16258747, nssv16258027, nssv16257349
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNBPF4, NBPF6
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730086
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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