A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511128



Internal ID20884454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1727705..1921432hg38UCSC Ensembl
chr17:1630999..1824726hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38193728
hg19193728
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185398
Samples
Known GenesRPA1, SERPINF1, SERPINF2, SMYD4, WDR81
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511128
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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