A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432554



Internal ID21394556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58324640..58345639hg38UCSC Ensembl
chr17:56402001..56423000hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3821000
hg1921000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15746037
SamplesSMI041
Known GenesBZRAP1, BZRAP1-AS1, MIR142, MIR4736, SUPT4H1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432554
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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