A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392475



Internal ID22129402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2304295..2304295hg38UCSC Ensembl
chr17:2207589..2207589hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560957
Supporting Variants
SamplesHG00512
Known GenesSRR
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14392475
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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