A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260679



Internal ID22119334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5386558..5388670hg38UCSC Ensembl
Outerchr1:5446618..5448730hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg385230
hg195230
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228811
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260679
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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