A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268941



Internal ID22188285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:126477417..126500556hg38UCSC Ensembl
OuterchrX:125611400..125634539hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3823140
hg1923140
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205181
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268941
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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