A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4435571



Internal ID21397573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81839766..81843765hg38UCSC Ensembl
chr8:82752001..82756000hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv829n172
Supporting Variantsnssv15750309, nssv15749523
SamplesNB11, NB07
Known GenesSNX16
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4435571
Frequency
Sample Size15
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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