A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271079



Internal ID22126331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52888216..52896933hg38UCSC Ensembl
Outerchr3:52922232..52930949hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg388718
hg198718
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194603
Supporting Variants
SamplesHG00512
Known GenesTMEM110, TMEM110-MUSTN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271079
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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