A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246958



Internal ID22376573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154581225..154633196hg38UCSC Ensembl
chrX:153809488..153861459hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3851972
hg1951972
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455290, nssv14464046, nssv14454456, nssv14453237, nssv14456164
SamplesHG00512, NA19238, NA19239, NA19240, HG00514
Known GenesCTAG1A, CTAG1B, FAM223A, FAM223B
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246958
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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