A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528062



Internal ID22397447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42601510..42601684hg38UCSC Ensembl
chr17:40753528..40753702hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384892, nssv14374706, nssv14391168, nssv14375068
SamplesNA19238, NA19239, HG00731, HG00733
Known GenesFAM134C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528062
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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