A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14327596



Internal ID22283961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28325553..28325553hg38UCSC Ensembl
chr6:28293330..28293330hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564640
Supporting Variants
SamplesNA19239
Known GenesZSCAN31
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14327596
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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