A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523557



Internal ID20896918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78469269..78485070hg38UCSC Ensembl
chr17:76465351..76481152hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3815802
hg1915802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186335
Samples
Known GenesDNAH17, DNAH17-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523557
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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