A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14388751



Internal ID22182768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51936545..51936632hg38UCSC Ensembl
chr17:50013905..50013992hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217746
Supporting Variants
SamplesHG00514
Known GenesCA10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14388751
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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