A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949818



Internal ID22725258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:24893613..24893613hg38UCSC Ensembl
chr4:24895235..24895235hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17417664
Samples
Known GenesCCDC149
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949818
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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