A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270779



Internal ID22293629
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221540
Supporting Variants
SamplesNA19240
Known GenesLOC550643
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270779
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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