A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275437



Internal ID22270059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13122406..13129256hg38UCSC Ensembl
Outerchr6:13122638..13129488hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg384824
hg194824
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219929
Supporting Variants
SamplesNA19239
Known GenesPHACTR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275437
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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