A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432621



Internal ID21394623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81574975..81668970hg38UCSC Ensembl
chr17:79542001..79636000hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3893996
hg1994000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15747341, nssv15747456
SamplesNB12, NB10
Known GenesCCDC137, NPLOC4, OXLD1, PDE6G, TSPAN10
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432621
Frequency
Sample Size15
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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