A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730105



Internal ID21400858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28339079..28822601hg38UCSC Ensembl
chr16:28350400..28833922hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38483523
hg19483523
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16257202, nssv16257694, nssv16256682, nssv16256521, nssv16257684, nssv16257462, nssv16258700, nssv16257490, nssv16258419, nssv16256618, nssv16256122, nssv16256862
SamplesHG00512, HG00513, HG00514
Known GenesAPOBR, CCDC101, CLN3, EIF3C, EIF3CL, IL27, MIR6862-1, MIR6862-2, NPIPB6, NUPR1, SULT1A1, SULT1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730105
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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