A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269002



Internal ID22184727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:15248810..15274008hg38UCSC Ensembl
OuterchrX:15266932..15292130hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38993
hg19993
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222699
Supporting Variants
SamplesHG00731
Known GenesASB9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269002
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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