A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205865



Internal ID22354492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1367953..1415789hg38UCSC Ensembl
OuterchrX:1486846..1534682hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3847837
hg1947837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269836, nssv14269837
SamplesHG00731, HG00513
Known GenesASMTL, ASMTL-AS1, IL3RA, SLC25A6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205865
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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