A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203389



Internal ID22352408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150466064..150494175hg38UCSC Ensembl
OuterchrX:149634330..149662441hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3828112
hg1928112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268947
SamplesHG00731
Known GenesMAMLD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203389
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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