A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv24n152



Internal ID22815727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1420319..1435545hg38UCSC Ensembl
chr1:1355699..1370925hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3815227
hg1915227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3212095, nsv3222523
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00514
Known GenesANKRD65, TMEM88B, VWA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv24n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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