A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211122



Internal ID22358788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:55953953..55960409hg38UCSC Ensembl
Outerchr15:56246151..56252607hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg386457
hg196457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2931n152
Supporting Variantsnssv14258482
SamplesHG00514
Known GenesNEDD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211122
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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