A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219884



Internal ID22364758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:53075964..53082468hg38UCSC Ensembl
OuterchrX:53105146..53111650hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg381271
hg191271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270775, nssv14270776, nssv14270777
SamplesHG00731, NA19240, HG00733
Known GenesGPR173, TSPYL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219884
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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