A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222207



Internal ID22366358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11736710..11737324hg38UCSC Ensembl
chr17:11640027..11640641hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14386067, nssv14390900, nssv14378743
SamplesHG00512, HG00513, HG00514
Known GenesDNAH9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222207
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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