A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15190381



Internal ID21329242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:43181881..43181881hg38UCSC Ensembl
chr10:43677329..43677329hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381437
hg191437
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3951176
Supporting Variants
SamplesHG002
Known GenesCSGALNACT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15190381
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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