A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219151



Internal ID22364261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2263744..2319324hg38UCSC Ensembl
OuterchrX:2181785..2237365hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270501, nssv14270500
SamplesHG00512, HG00731
Known GenesDHRSX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219151
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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