A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271135



Internal ID22151995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:156976176..156988089hg38UCSC Ensembl
Outerchr3:156693965..156705878hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg3811914
hg1911914
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207444
Supporting Variants
SamplesHG00514
Known GenesLEKR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271135
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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