A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270452



Internal ID22315301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:89199776..89223644hg38UCSC Ensembl
OuterchrX:88454775..88478643hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg387040
hg197040
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229952
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270452
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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