A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279500



Internal ID22125301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:87062015..87073854hg38UCSC Ensembl
Outerchr10:88821772..88833611hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3811840
hg1911840
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216840
Supporting Variants
SamplesHG00512
Known GenesGLUD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279500
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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