A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279404



Internal ID22184649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150166226..150169939hg38UCSC Ensembl
Outerchr6:150487362..150491075hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220365
Supporting Variants
SamplesHG00731
Known GenesPPP1R14C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279404
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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