A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196347



Internal ID22346375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30763212..30772685hg38UCSC Ensembl
chrX:30781329..30790802hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg389474
hg199474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14350821
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196347
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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