A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4435702



Internal ID21397704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137882549..137889548hg38UCSC Ensembl
chr9:140777001..140784000hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg387000
hg197000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv877n172
Supporting Variantsnssv15746090
SamplesBTQ055
Known GenesCACNA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4435702
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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