A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269454



Internal ID22204421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:101851712..101918385hg38UCSC Ensembl
OuterchrX:101106684..101173358hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3866674
hg1966675
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190956
Supporting Variants
SamplesHG00732
Known GenesNXF5, ZMAT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269454
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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