A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899164



Internal ID22674290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45493756..45504255hg38UCSC Ensembl
chr5:45493858..45504357hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3810500
hg1910500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17412117
Samples
Known GenesHCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899164
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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