A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526476



Internal ID22395856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40542245..40542313hg38UCSC Ensembl
chrX:40401497..40401565hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14350318, nssv14350320, nssv14350317, nssv14350322, nssv14350321, nssv14350319, nssv14350323
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526476
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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