A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219929



Internal ID22364792
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275435, nssv14275434, nssv14275433, nssv14275430, nssv14275438, nssv14275432, nssv14275431, nssv14275437, nssv14275436
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPHACTR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219929
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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