A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430728



Internal ID22172976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:56772729..56783660hg38UCSC Ensembl
chrX:56799162..56810093hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3810932
hg1910932
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174807
Supporting Variants
SamplesHG00514
Known GenesLOC550643
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14430728
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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