A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278508



Internal ID22254126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38221822..38247233hg38UCSC Ensembl
Outerchr7:38261423..38286834hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381994
hg191994
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213538
Supporting Variants
SamplesNA19238
Known GenesSTARD3NL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278508
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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