A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402197



Internal ID22460067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32261320..32261320hg38UCSC Ensembl
chr2:32486389..32486389hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950330
Supporting Variants
Samples
Known GenesNLRC4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402197
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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