A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270683



Internal ID22276805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:73592783..73624985hg38UCSC Ensembl
OuterchrX:72812619..72844820hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3832203
hg1932202
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209188
Supporting Variants
SamplesNA19239
Known GenesCHIC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270683
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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