A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5832183



Internal ID22607118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210106068..210107491hg38UCSC Ensembl
chr2:210970792..210972215hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381424
hg191424
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17482051
Samples
Known GenesKANSL1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5832183
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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