A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201514



Internal ID20768555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150064001..150069600hg38UCSC Ensembl
chr1:150036000..150041662hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg385600
hg195663
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333402
Supporting Variants
Samples
Known GenesVPS45
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201514
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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