A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207878



Internal ID22356211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49140740..49142370hg38UCSC Ensembl
chrX:48997075..48998705hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381631
hg191631
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14351174
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207878
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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