A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207262



Internal ID22355685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1401507..1437299hg38UCSC Ensembl
OuterchrX:1520400..1556192hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3835793
hg1935793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269270, nssv14269271, nssv14269269
SamplesHG00512, NA19240, HG00514
Known GenesASMTL, ASMTL-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207262
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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