A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438697



Internal ID22232720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141906090..141906301hg38UCSC Ensembl
chrX:140993876..140994087hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205215
Supporting Variants
SamplesHG00733
Known GenesMAGEC1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14438697
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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