A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199185



Internal ID22348806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19559131..19559455hg38UCSC Ensembl
chrX:19577249..19577573hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14349996, nssv14349997, nssv14349994, nssv14349993, nssv14349995
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known GenesSH3KBP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199185
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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