A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237571



Internal ID22373908
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384540, nssv14386638, nssv14387066, nssv14379435, nssv14389082, nssv14375813, nssv14382763, nssv14377031, nssv14378468
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237571
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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