A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414429



Internal ID22472299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129314398..129314398hg38UCSC Ensembl
chr6:129635543..129635543hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5948847
Supporting Variants
Samples
Known GenesLAMA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414429
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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