A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229954



Internal ID22371635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230843450..230844100hg38UCSC Ensembl
Outerchr1:230979196..230979846hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3824242
hg1924242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273564
SamplesHG00731
Known GenesC1orf198
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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