A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977507



Internal ID22752442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:127004476..127004476hg38UCSC Ensembl
chr11:126874371..126874371hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366981
Samples
Known GenesKIRREL3-AS3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977507
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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