A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228972



Internal ID22370974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:102549933..102563982hg38UCSC Ensembl
OuterchrX:101804861..101818910hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg381050
hg191050
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270816
SamplesHG00731
Known GenesNXF4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228972
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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