A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227731



Internal ID22370134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:127904155..127940784hg38UCSC Ensembl
Outerchr4:128825310..128861939hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg381027
hg191027
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273998, nssv14273994, nssv14273997, nssv14273995, nssv14273996
SamplesHG00512, HG00731, HG00732, HG00733, HG00514
Known GenesMFSD8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227731
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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