A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562321



Internal ID22431075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180873533..180873533hg38UCSC Ensembl
chr2:181738260..181738260hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296404, nssv14296402, nssv14296405, nssv14296409, nssv14296403, nssv14296408, nssv14296407, nssv14296410, nssv14296406
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSCHLAP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562321
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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