A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730152



Internal ID21400963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195615104..195997499hg38UCSC Ensembl
chr3:195341975..195724370hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38382396
hg19382396
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16256760, nssv16257033, nssv16258320, nssv16257887, nssv16256173, nssv16257726, nssv16256424
SamplesNA19238, NA19239, NA19240
Known GenesMIR570, MIR6829, MUC20, MUC4, SDHAP1, SDHAP2, TNK2
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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