A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6506033



Internal ID20879308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18098851..18102373hg38UCSC Ensembl
chr17:18002165..18005687hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383523
hg193523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192571
Samples
Known GenesDRG2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6506033
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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