A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15205678



Internal ID21344479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:41775806..41775806hg38UCSC Ensembl
chrX:41635059..41635059hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3937653
Supporting Variants
SamplesHG002
Known GenesCASK
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15205678
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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