A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3946997



Internal ID21367068
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15206158
SamplesHG002
Known GenesSEPT6
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3946997
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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