A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6508163



Internal ID20881461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:600589..820449hg38UCSC Ensembl
chr17:503829..723689hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38219861
hg19219861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2963n223
Supporting Variantsnssv18178517
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6508163
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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