A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221540



Internal ID22365894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56761945..56767619hg38UCSC Ensembl
OuterchrX:56788378..56794052hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3830102
hg1930102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270778, nssv14270779
SamplesNA19240, HG00514
Known GenesLOC550643
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221540
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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