A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277699



Internal ID22259882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160774937..160858680hg38UCSC Ensembl
Outerchr6:161195969..161279712hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg388849
hg198849
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223194
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277699
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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