A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351904



Internal ID22139662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:64197473..64205102hg38UCSC Ensembl
chrX:63417353..63424982hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg387630
hg197630
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196539
Supporting Variants
SamplesHG00513
Known GenesAMER1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14351904
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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