A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270668



Internal ID22273099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:12139821..12158548hg38UCSC Ensembl
OuterchrX:12157940..12176667hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3818728
hg1918728
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204311
Supporting Variants
SamplesNA19239
Known GenesFRMPD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270668
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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