A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228848



Internal ID22370897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235539422..235588886hg38UCSC Ensembl
Outerchr1:235702722..235752186hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381285
hg191285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273580
SamplesHG00731
Known GenesGNG4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228848
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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