A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964349



Internal ID22739284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15170144..15170144hg38UCSC Ensembl
chr1:15496640..15496640hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353064
Samples
Known GenesC1orf195, TMEM51
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964349
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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