A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456401



Internal ID22183439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:52070847..52192188hg38UCSC Ensembl
chrX:51813943..51935284hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38121342
hg19121342
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551726
Supporting Variants
SamplesHG00514
Known GenesMAGED4, MAGED4B, SNORA11D, SNORA11E
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14456401
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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