A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197821



Internal ID22347654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153830416..153832446hg38UCSC Ensembl
chrX:153095871..153097901hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg382031
hg192031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354908, nssv14354909, nssv14354907
SamplesHG00512, NA19239, HG00731
Known GenesPDZD4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197821
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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