A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441623



Internal ID22499493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119647970..119647970hg38UCSC Ensembl
chrX:118781933..118781933hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950014
Supporting Variants
Samples
Known GenesSEPT6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441623
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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