A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270804



Internal ID22189169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1596042..1598181hg38UCSC Ensembl
OuterchrX:1714935..1717074hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219392
Supporting Variants
SamplesHG00731
Known GenesAKAP17A, ASMT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270804
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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