A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279411



Internal ID22121179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:153108140..153112982hg38UCSC Ensembl
Outerchr6:153429275..153434117hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218023
Supporting Variants
SamplesHG00512
Known GenesRGS17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279411
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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