A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15205196



Internal ID21343996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1293845..1293845hg38UCSC Ensembl
chrX:1412738..1412738hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3931016
Supporting Variants
SamplesHG002
Known GenesCSF2RA
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15205196
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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