A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208194



Internal ID22356476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:143474167..143477672hg38UCSC Ensembl
chrX:142561950..142565455hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg383506
hg193506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14353374, nssv14353372, nssv14353373, nssv14353371, nssv14353370
SamplesHG00512, NA19238, NA19239, HG00731, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208194
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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