A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351161



Internal ID22194239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48642107..48644541hg38UCSC Ensembl
chrX:48500495..48502929hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382435
hg192435
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525971
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14351161
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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