A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562504



Internal ID22392173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171438909..171438909hg38UCSC Ensembl
chr2:172295419..172295419hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295539, nssv14295540, nssv14295538
SamplesHG00512, NA19238, HG00731
Known GenesDCAF17
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562504
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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