A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194340



Internal ID22344663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:88353447..88387402hg38UCSC Ensembl
Outerchr3:88402597..88436552hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3833956
hg1933956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271086
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194340
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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