A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199103



Internal ID22348735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68953105..68953207hg38UCSC Ensembl
chrX:68172948..68173050hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14352133, nssv14352132, nssv14352137, nssv14375284, nssv14352134, nssv14352138, nssv14352131, nssv14352136, nssv14352135
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199103
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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