A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275605



Internal ID22189796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:119689111..119782166hg38UCSC Ensembl
Outerchr6:120010268..120103312hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3893056
hg1993045
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194057
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275605
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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