A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14330421



Internal ID22183996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142222662..142222662hg38UCSC Ensembl
chr6:142543799..142543799hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564314
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14330421
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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