A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234285



Internal ID22372988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129858931..129859730hg38UCSC Ensembl
chrX:128992907..128993706hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14353573, nssv14353576, nssv14353574, nssv14353578, nssv14353579, nssv14353575, nssv14353577, nssv14353572
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234285
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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