A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187381



Internal ID21326214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200917847..200917847hg38UCSC Ensembl
chr1:200886975..200886975hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952932
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187381
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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