A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173398



Internal ID22332304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49069262..49069378hg38UCSC Ensembl
chrX:48926914..48927030hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14460508, nssv14430058
SamplesHG00733, HG00514
Known GenesCCDC120
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3173398
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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