A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268937



Internal ID22184992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:105278947..105318206hg38UCSC Ensembl
OuterchrX:104523631..104562891hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3839260
hg1939261
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198201
Supporting Variants
SamplesHG00731
Known GenesIL1RAPL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268937
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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