A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15746037



Internal ID21393080
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 StatusS
Merged Variantsnsv4432554
Supporting Variants
SamplesSMI041
Known GenesBZRAP1, BZRAP1-AS1, MIR142, MIR4736, SUPT4H1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15746037
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer