A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14336980



Internal ID22310308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138920170..138920170hg38UCSC Ensembl
chr7:138604916..138604916hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564855
Supporting Variants
SamplesNA19240
Known GenesKIAA1549
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14336980
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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