A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278929



Internal ID22184445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:109042303..109055002hg38UCSC Ensembl
Outerchr6:109363506..109376205hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38723
hg19723
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220471
Supporting Variants
SamplesHG00731
Known GenesSESN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278929
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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