A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228554



Internal ID22370710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:38325097..38378506hg38UCSC Ensembl
Outerchr8:38182615..38236024hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3853410
hg1953410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279109
SamplesHG00733
Known GenesWHSC1L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228554
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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