A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208283



Internal ID22356551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:24547881..24577976hg38UCSC Ensembl
Outerchr5:24547990..24578085hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg3830096
hg1930096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273293
SamplesNA19239
Known GenesCDH10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208283
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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