A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201788



Internal ID20768828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186353351..186602074hg38UCSC Ensembl
chr1:186322483..186571206hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38248724
hg19248724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325548
Supporting Variants
Samples
Known GenesC1orf27, MIR548F1, OCLM, PDC, TPR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201788
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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