A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528414



Internal ID22397802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29705701..29706014hg38UCSC Ensembl
chr16:29717022..29717335hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14373069, nssv14380365, nssv14375962, nssv14389613, nssv14377194, nssv14389151, nssv14378985, nssv14388845
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528414
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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