A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264909



Internal ID22223724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210627183..210669006hg38UCSC Ensembl
Outerchr1:210800527..210842347hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg383406
hg193406
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218763
Supporting Variants
SamplesHG00733
Known GenesHHAT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264909
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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