A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178324



Internal ID20745364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:883020..1069726hg38UCSC Ensembl
chr17:786260..972966hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38186707
hg19186707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6509810
Supporting Variants
Samples
Known GenesABR, MIR3183, NXN, TIMM22
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178324
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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