A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14350376



Internal ID22262497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:41749235..41749486hg38UCSC Ensembl
chrX:41608488..41608739hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204155
Supporting Variants
SamplesNA19238
Known GenesCASK
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14350376
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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