A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201039



Internal ID20768079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1740301..1744200hg38UCSC Ensembl
chr1:1671740..1675639hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383900
hg193900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326233
Supporting Variants
Samples
Known GenesSLC35E2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201039
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0128


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