A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525247



Internal ID22394623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231441339..231441815hg38UCSC Ensembl
chr2:232306050..232306526hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5033n152
Supporting Variantsnssv14298971, nssv14298973, nssv14298975, nssv14298972, nssv14298970, nssv14298974, nssv14298976
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525247
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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