A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269847



Internal ID22136246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:132279210..132360970hg38UCSC Ensembl
OuterchrX:131413238..131494998hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg3881761
hg1981761
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200450
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269847
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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