A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430142



Internal ID22172138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140514502..140514553hg38UCSC Ensembl
chrX:139596667..139596718hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177670
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14430142
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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