A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18191216



Internal ID20758256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:835045..1021607hg38UCSC Ensembl
chr17:738285..924847hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38186563
hg19186563
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6499081
Supporting Variants
Samples
Known GenesABR, NXN, TIMM22
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18191216
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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