A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953951



Internal ID22729219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:20729378..20729378hg38UCSC Ensembl
chr4:20731001..20731001hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422997
Samples
Known GenesKCNIP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953951
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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