A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267915



Internal ID22121690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32725658..32730181hg38UCSC Ensembl
Outerchr21:34097969..34102492hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg384524
hg194524
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225879
Supporting Variants
SamplesHG00512
Known GenesPAXBP1-AS1, SYNJ1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267915
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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