A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270506



Internal ID22204634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:6514301..6559262hg38UCSC Ensembl
OuterchrX:6432342..6477303hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg386560
hg196560
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217891
Supporting Variants
SamplesHG00732
Known GenesVCX3A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270506
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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