A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526943



Internal ID22396327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12744294..12744393hg38UCSC Ensembl
chrX:12762413..12762512hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14349887, nssv14349885, nssv14349888, nssv14349886
SamplesNA19238, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526943
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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