A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216768



Internal ID22362652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39150936..39151036hg38UCSC Ensembl
chr8:39008455..39008555hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14341281, nssv14341276, nssv14341277, nssv14341278, nssv14341280, nssv14341279, nssv14341282, nssv14341283
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesADAM32
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216768
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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