A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205167



Internal ID22353903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17703051..17706950hg38UCSC Ensembl
chr1:18029546..18033445hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg383900
hg193900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14353175, nssv14353173, nssv14353179, nssv14353177, nssv14353180, nssv14353176, nssv14353172, nssv14353174, nssv14353178
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205167
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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