A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207033



Internal ID22355493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:56634554..56646401hg38UCSC Ensembl
chrX:56660987..56672834hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3811848
hg1911848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10132n152
Supporting Variantsnssv14351812, nssv14351815, nssv14351817, nssv14351814, nssv14351813, nssv14351816
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207033
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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