A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560965



Internal ID22429760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42106635..42106635hg38UCSC Ensembl
chr17:40258653..40258653hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375011
SamplesHG00512
Known GenesDHX58
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560965
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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