A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375813



Internal ID22125686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40376710..40377750hg38UCSC Ensembl
chr17:38532962..38534002hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237571
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375813
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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