A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963244



Internal ID22738179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17642309..17642309hg38UCSC Ensembl
chr2:17823576..17823576hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395890
Samples
Known GenesVSNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963244
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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