A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270708



Internal ID22223612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54423384..54451508hg38UCSC Ensembl
OuterchrX:54449817..54477941hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38985
hg19985
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220586
Supporting Variants
SamplesHG00733
Known GenesFGD1, TSR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270708
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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