A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275419



Internal ID22253701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:7948005..7959971hg38UCSC Ensembl
Outerchr6:7948238..7960204hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3831173
hg1931173
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229025
Supporting Variants
SamplesNA19238
Known GenesBLOC1S5-TXNDC5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275419
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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