A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384788



Internal ID22196066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37729952..37730015hg38UCSC Ensembl
chr17:36089943..36090006hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211559
Supporting Variants
SamplesHG00731
Known GenesHNF1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14384788
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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