A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512392



Internal ID20885726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8287124..8288682hg38UCSC Ensembl
chr17:8190442..8192000hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381559
hg191559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18038352
Samples
Known GenesRANGRF, SLC25A35
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512392
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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