A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200584



Internal ID20767624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217814587..218303167hg38UCSC Ensembl
chr1:217987929..218476509hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38488581
hg19488581
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327163
Supporting Variants
Samples
Known GenesLINC00210, RRP15, SPATA17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200584
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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