A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194982



Internal ID22345228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153542049..153542120hg38UCSC Ensembl
chrX:152807507..152807578hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354889, nssv14354890, nssv14413754
SamplesHG00513, HG00514
Known GenesATP2B3
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)nsv3194982
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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