A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351174



Internal ID22125206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49140740..49142370hg38UCSC Ensembl
chrX:48997075..48998705hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381631
hg191631
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207878
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14351174
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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