A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224005



Internal ID22367585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56762466..56784945hg38UCSC Ensembl
OuterchrX:56788899..56811378hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg385458
hg195458
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270780
SamplesNA19240
Known GenesLOC550643
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224005
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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