A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192265



Internal ID21331136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68929867..68929867hg38UCSC Ensembl
chr11:68697335..68697335hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929998
Supporting Variants
SamplesHG002
Known GenesIGHMBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192265
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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