A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6510186



Internal ID20883503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8901444..9029918hg38UCSC Ensembl
chr17:8804761..8933235hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38128475
hg19128475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187521
Samples
Known GenesNTN1, PIK3R5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6510186
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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