A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269528



Internal ID22258311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2613376..2639000hg38UCSC Ensembl
OuterchrX:2531417..2557041hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217154
Supporting Variants
SamplesNA19238
Known GenesCD99P1, LINC00102
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269528
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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