A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351872



Internal ID22161365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:62462542..62506673hg38UCSC Ensembl
chrX:61682013..61726143hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg3844132
hg1944131
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196700
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14351872
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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