A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14382691



Internal ID22289007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19356681..19356816hg38UCSC Ensembl
chrX:19374799..19374934hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176539
Supporting Variants
SamplesNA19240
Known GenesPDHA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14382691
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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