A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276132



Internal ID22124491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:99577007..99591612hg38UCSC Ensembl
Outerchr6:100024883..100039488hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3814606
hg1914606
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195882
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276132
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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