A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434544



Internal ID21396546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159921994..159924993hg38UCSC Ensembl
chr5:159349001..159352000hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15753567
SamplesNB11
Known GenesADRA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434544
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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