A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271439



Internal ID22255214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195746345..196001356hg38UCSC Ensembl
Outerchr3:195473216..195728227hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38161023
hg19161023
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218218
Supporting Variants
SamplesNA19238
Known GenesMIR6829, MUC4, SDHAP1, TNK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271439
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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