A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199211



Internal ID20766251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107985271..107989967hg38UCSC Ensembl
chr1:108527893..108532589hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg384697
hg194697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322148
Supporting Variants
Samples
Known GenesVAV3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199211
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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