A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14349883



Internal ID22206875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12230824..12237115hg38UCSC Ensembl
chrX:12248943..12255234hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg386292
hg196292
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191117
Supporting Variants
SamplesHG00732
Known GenesFRMPD4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14349883
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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