A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526079



Internal ID22395459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129784903..129785052hg38UCSC Ensembl
chrX:128918879..128919028hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10285n152
Supporting Variantsnssv14353564, nssv14353569, nssv14353568, nssv14353571, nssv14353570, nssv14353567, nssv14353565, nssv14353566
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSASH3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526079
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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