A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7637n152



Internal ID22823340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176653446..176672275hg38UCSC Ensembl
chr5:176080447..176099276hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3818830
hg1918830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3203438, nsv3204360
SamplesHG00513, HG00514
Known GenesTSPAN17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7637n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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