A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207100



Internal ID22355548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40593191..40593559hg38UCSC Ensembl
chrX:40452443..40452811hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14350326, nssv14350324, nssv14350325
SamplesHG00512, HG00732, HG00513
Known GenesATP6AP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207100
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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