A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262643



Internal ID22223007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:51903590..51940528hg38UCSC Ensembl
Outerchr1:52369262..52406200hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384561
hg194561
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222005
Supporting Variants
SamplesHG00733
Known GenesRAB3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262643
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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