A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15206158



Internal ID21344956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119647969..119647969hg38UCSC Ensembl
chrX:118781932..118781932hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946997
Supporting Variants
SamplesHG002
Known GenesSEPT6
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15206158
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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