A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200136



Internal ID20767176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143521201..143789400hg38UCSC Ensembl
chr1:149018779..149284035hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38268200
hg19265257
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318003
Supporting Variants
Samples
Known GenesLOC101929780, LOC388692, NBPF23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200136
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02771


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