A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270780



Internal ID22299590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56762466..56784945hg38UCSC Ensembl
OuterchrX:56788899..56811378hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg385458
hg195458
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224005
Supporting Variants
SamplesNA19240
Known GenesLOC550643
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270780
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer