A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277724



Internal ID22183718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:163323049..163345123hg38UCSC Ensembl
Outerchr6:163744081..163766155hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381339
hg191339
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211729
Supporting Variants
SamplesHG00731
Known GenesDKFZp451B082, PACRG-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277724
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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