A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17429518



Internal ID22487388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139155448..139155448hg38UCSC Ensembl
chr5:138491137..138491137hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957756
Supporting Variants
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17429518
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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