A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269864



Internal ID22188702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:6168900..6203344hg38UCSC Ensembl
OuterchrX:6086941..6121385hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3834445
hg1934445
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203404
Supporting Variants
SamplesHG00731
Known GenesNLGN4X
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269864
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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