A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205123



Internal ID20772163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81800301..81803700hg38UCSC Ensembl
chr1:82265986..82269385hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321546
Supporting Variants
Samples
Known GenesLPHN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205123
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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