A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561600



Internal ID22430368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:187137809..187137809hg38UCSC Ensembl
chr1:187106941..187106941hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297524, nssv14297526, nssv14297527, nssv14297525, nssv14297528
SamplesHG00512, NA19238, HG00731, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561600
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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