A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14350834



Internal ID22207332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30868515..30868586hg38UCSC Ensembl
chrX:30886632..30886703hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200859
Supporting Variants
SamplesHG00732
Known GenesTAB3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14350834
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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