A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195460



Internal ID22345643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100255754..100257866hg38UCSC Ensembl
chrX:99510752..99512864hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg382113
hg192113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14353122, nssv14353127, nssv14353128, nssv14353123, nssv14353125, nssv14353126, nssv14353124
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195460
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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