A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274807



Internal ID22188447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:159706173..159713117hg38UCSC Ensembl
Outerchr6:160127205..160134149hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386945
hg196945
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200387
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274807
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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