A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512060



Internal ID20885390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:856745..1043814hg38UCSC Ensembl
chr17:759985..947054hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38187070
hg19187070
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2965n223
Supporting Variantsnssv18178567
Samples
Known GenesABR, MIR3183, NXN, TIMM22
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512060
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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