A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6501973



Internal ID20875213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5191133..5307344hg38UCSC Ensembl
chr17:5094428..5210639hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38116212
hg19116212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189253
Samples
Known GenesLOC100130950, RABEP1, SCIMP, ZNF594
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6501973
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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