A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525971



Internal ID22395350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48642107..48644541hg38UCSC Ensembl
chrX:48500495..48502929hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382435
hg192435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14351161, nssv14351163, nssv14351162, nssv14351160
SamplesHG00512, NA19239, HG00731, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525971
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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