A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269856



Internal ID22144831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:37382263..37393770hg38UCSC Ensembl
OuterchrX:37241516..37253023hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3811508
hg1911508
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191403
Supporting Variants
SamplesHG00514
Known GenesPRRG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269856
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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