A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204155



Internal ID22353051
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14350377, nssv14350376
SamplesNA19238, NA19240
Known GenesCASK
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204155
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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