A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227847



Internal ID22370211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180664462..180678975hg38UCSC Ensembl
Outerchr1:180633598..180648111hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275089
SamplesHG00513
Known GenesXPR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227847
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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