A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220004



Internal ID22364841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:28335803..28360415hg38UCSC Ensembl
Outerchr1:28662314..28686926hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg385741
hg195741
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261228, nssv14261225, nssv14261229, nssv14261226, nssv14261227
SamplesNA19238, NA19239, HG00731, NA19240, HG00733
Known GenesMED18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220004
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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