A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15206117



Internal ID21344914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:83878226..83878226hg38UCSC Ensembl
chrX:83133234..83133234hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381208
hg191208
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3951791
Supporting Variants
SamplesHG002
Known GenesCYLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15206117
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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