A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269664



Internal ID22188620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148541346..148590031hg38UCSC Ensembl
OuterchrX:147622867..147671552hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38984
hg19984
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221928
Supporting Variants
SamplesHG00731
Known GenesAFF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269664
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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